SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
MyVariant Identifiers:
chr2:g.238672483T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237763840T>A , CM000664.2:g.237763840T>A | GRCh38 |
| NC_000002.11:g.238672483T>A , CM000664.1:g.238672483T>A | GRCh37 |
| NC_000002.10:g.238337222T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698097.1:c.1181+3635T>A | ||
| ENST00000698098.1:c.955+3635T>A | ENSP00000513562.1:n.955+3635T>A | |
| ENST00000308482.14:c.1459+3635T>A MANE Select | ENSP00000310109.9:n.1459+3635T>A | |
| ENST00000244815.9:c.2055T>A | ENSP00000244815.5:p.Gly685= | |
| ENST00000289175.10:c.1959T>A | ENSP00000289175.6:p.Gly653= | |
| ENST00000308482.13:c.1459+3635T>A | ENSP00000310109.9:n.1459+3635T>A | |
| ENST00000392000.4:c.2127T>A | ENSP00000375857.4:p.Gly709= | |
| ENST00000483443.1:n.235+3635T>A | ||
| NM_001137550.1:c.1459+3635T>A | NP_001131022.1:n.1459+3635T>A | |
| NM_001137551.1:c.721+3635T>A | NP_001131023.1:n.721+3635T>A | |
| NM_001137552.1:c.2127T>A | NP_001131024.1:p.Gly709= | |
| NM_001137553.1:c.1959T>A | NP_001131025.1:p.Gly653= | |
| NM_004735.3:c.2055T>A | NP_004726.2:p.Gly685= | |
| XM_005246112.3:c.2760T>A | XP_005246169.1:p.Gly920= | |
| XM_005246115.3:c.2715T>A | XP_005246172.1:p.Gly905= | |
| XM_005246116.3:c.2697T>A | XP_005246173.1:p.Gly899= | |
| XM_005246118.3:c.2652T>A | XP_005246175.1:p.Gly884= | |
| XM_005246119.3:c.2649T>A | XP_005246176.1:p.Gly883= | |
| XM_005246120.3:c.2613T>A | XP_005246177.1:p.Gly871= | |
| XM_005246121.3:c.2598T>A | XP_005246178.1:p.Gly866= | |
| XM_005246122.3:c.2586T>A | XP_005246179.1:p.Gly862= | |
| XM_005246124.1:c.2568T>A | XP_005246181.1:p.Gly856= | |
| XM_005246125.3:c.2547T>A | XP_005246182.1:p.Gly849= | |
| XM_005246126.3:c.2508T>A | XP_005246183.1:p.Gly836= | |
| XM_005246128.1:c.2475T>A | XP_005246185.1:p.Gly825= | |
| XM_005246129.3:c.2436T>A | XP_005246186.1:p.Gly812= | |
| XM_005246130.3:c.2409T>A | XP_005246187.1:p.Gly803= | |
| XM_005246131.3:c.2322T>A | XP_005246188.1:p.Gly774= | |
| XM_005246132.3:c.2247T>A | XP_005246189.1:p.Gly749= | |
| XM_005246133.1:c.2217T>A | XP_005246190.1:p.Gly739= | |
| XM_005246134.1:c.2175T>A | XP_005246191.1:p.Gly725= | |
| XM_005246135.1:c.2145T>A | XP_005246192.1:p.Gly715= | |
| XM_005246136.1:c.1989T>A | XP_005246193.1:p.Gly663= | |
| XM_005246141.3:c.823+3635T>A | XP_005246198.1:n.823+3635T>A | |
| XM_005246142.1:c.751+3635T>A | XP_005246199.1:n.751+3635T>A | |
| XM_006712842.2:c.2658T>A | XP_006712905.1:p.Gly886= | |
| XM_006712843.2:c.2553T>A | XP_006712906.1:p.Gly851= | |
| XM_006712844.1:c.2487T>A | XP_006712907.1:p.Gly829= | |
| XM_006712845.2:c.2469T>A | XP_006712908.1:p.Gly823= | |
| XM_006712846.1:c.2373T>A | XP_006712909.1:p.Gly791= | |
| XM_006712847.1:c.2313T>A | XP_006712910.1:p.Gly771= | |
| XM_006712848.1:c.2241T>A | XP_006712911.1:p.Gly747= | |
| XM_011512152.1:c.2793T>A | XP_011510454.1:p.Gly931= | |
| XM_011512153.1:c.2775T>A | XP_011510455.1:p.Gly925= | |
| XM_011512154.1:c.2763T>A | XP_011510456.1:p.Gly921= | |
| XM_011512155.1:c.2754T>A | XP_011510457.1:p.Gly918= | |
| XM_011512156.1:c.2721T>A | XP_011510458.1:p.Gly907= | |
| XM_011512157.1:c.2607T>A | XP_011510459.1:p.Gly869= | |
| XM_011512158.1:c.2535T>A | XP_011510460.1:p.Gly845= | |
| XM_011512159.1:c.2343T>A | XP_011510461.1:p.Gly781= | |
| XM_011512160.1:c.1555+3635T>A | XP_011510462.1:n.1555+3635T>A | |
| XM_011512161.1:c.1555+3635T>A | XP_011510463.1:n.1555+3635T>A | |
| XM_011512162.1:c.1369+3635T>A | XP_011510464.1:n.1369+3635T>A | |
| XM_011512163.1:c.1297+3635T>A | XP_011510465.1:n.1297+3635T>A | |
| XM_011512164.1:c.751+3635T>A | XP_011510466.1:n.751+3635T>A | |
| XM_011512165.1:c.721+3635T>A | XP_011510467.1:n.721+3635T>A | |
| XM_011512166.1:c.1516+3635T>A | XP_011510468.1:n.1516+3635T>A | |
| XR_923063.1:n.1605+3635T>A | ||
| XM_005246141.4:c.823+3635T>A | XP_005246198.1:n.823+3635T>A | |
| XM_005246142.2:c.751+3635T>A | XP_005246199.1:n.751+3635T>A | |
| XM_017005253.2:c.1522+3635T>A | XP_016860742.1:n.1522+3635T>A | |
| XM_017005254.2:c.1522+3635T>A | XP_016860743.1:n.1522+3635T>A | |
| XM_017005255.2:c.1450+3635T>A | XP_016860744.1:n.1450+3635T>A | |
| XM_017005256.2:c.1336+3635T>A | XP_016860745.1:n.1336+3635T>A | |
| XM_017005257.2:c.1387+3635T>A | XP_016860746.1:n.1387+3635T>A | |
| XM_017005258.2:c.1336+3635T>A | XP_016860747.1:n.1336+3635T>A | |
| XM_017005260.2:c.1162+3635T>A | XP_016860749.1:n.1162+3635T>A | |
| XM_017005261.2:c.1099+3635T>A | XP_016860750.1:n.1099+3635T>A | |
| XM_017005262.2:c.1099+3635T>A | XP_016860751.1:n.1099+3635T>A | |
| XM_017005263.2:c.937+3635T>A | XP_016860752.1:n.937+3635T>A | |
| XR_001739039.2:n.2829T>A | ||
| XR_001739040.1:n.2994T>A | ||
| XR_001739041.2:n.2790T>A | ||
| XR_001739042.2:n.2766T>A | ||
| XR_001739043.1:n.2742T>A | ||
| XR_001739044.2:n.2757T>A | ||
| XR_001739045.2:n.2727T>A | ||
| XR_001739046.1:n.3074T>A | ||
| XR_001739047.2:n.2643T>A | ||
| XR_001739048.1:n.2832T>A | ||
| XR_001739049.2:n.2577T>A | ||
| XR_001739050.2:n.2538T>A | ||
| XR_001739051.2:n.2505T>A | ||
| XR_001739052.2:n.2478T>A | ||
| XR_001739053.1:n.2467T>A | ||
| XR_001739054.1:n.2389T>A | ||
| XR_001739055.2:n.2406T>A | ||
| XR_001739056.2:n.2391T>A | ||
| XR_001739057.1:n.2407T>A | ||
| XR_001739058.1:n.2586T>A | ||
| XR_001739059.2:n.2319T>A | ||
| XR_001739060.1:n.2293T>A | ||
| XR_001739061.1:n.2335T>A | ||
| XR_001739062.1:n.2512T>A | ||
| XR_001739063.1:n.2219T>A | ||
| XR_001739064.1:n.2480T>A | ||
| XR_001739065.1:n.2424T>A | ||
| XR_001739066.1:n.2221T>A | ||
| XR_001739067.1:n.2128T>A | ||
| XR_001739068.1:n.2149T>A | ||
| XR_001739069.1:n.2326T>A | ||
| XR_001739070.1:n.2190T>A | ||
| XR_001739071.1:n.2048T>A | ||
| XR_001739072.1:n.2294T>A | ||
| XR_001739073.2:n.1591+3635T>A | ||
| XR_002959364.1:n.2220T>A | ||
| NM_001137550.2:c.1459+3635T>A MANE Select | NP_001131022.1:n.1459+3635T>A | |
| NM_001137552.2:c.2127T>A | NP_001131024.1:p.Gly709= | |
| NM_001137553.2:c.1959T>A | NP_001131025.1:p.Gly653= | |
| NM_004735.4:c.2055T>A | NP_004726.2:p.Gly685= | |
| NM_001137551.2:c.721+3635T>A | NP_001131023.1:n.721+3635T>A |