Canonical Allele Identifier: CA2192285

Gene: LRRFIP1

Linked Data

• dbSNP Id: rs767767219
• ExAC: 2:238672522 C / T
• gnomAD v2: 2-238672522-C-T
• gnomAD v3: 2-237763879-C-T
• gnomAD v4: 2-237763879-C-T
• COSMIC: COSM3839004 ; COSM3839005
• MyVariant Identifiers: chr2:g.238672522C>T (hg19) ; chr2:g.237763879C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237763879C>T , CM000664.2:g.237763879C>T	GRCh38
NC_000002.11:g.238672522C>T , CM000664.1:g.238672522C>T	GRCh37
NC_000002.10:g.238337261C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698097.1:c.1181+3674C>T
ENST00000698098.1:c.955+3674C>T	ENSP00000513562.1:n.955+3674C>T
ENST00000308482.14:c.1459+3674C>T MANE Select	ENSP00000310109.9:n.1459+3674C>T
ENST00000244815.9:c.2094C>T	ENSP00000244815.5:p.Asp698=
ENST00000289175.10:c.1998C>T	ENSP00000289175.6:p.Asp666=
ENST00000308482.13:c.1459+3674C>T	ENSP00000310109.9:n.1459+3674C>T
ENST00000392000.4:c.2166C>T	ENSP00000375857.4:p.Asp722=
ENST00000483443.1:n.235+3674C>T
NM_001137550.1:c.1459+3674C>T	NP_001131022.1:n.1459+3674C>T
NM_001137551.1:c.721+3674C>T	NP_001131023.1:n.721+3674C>T
NM_001137552.1:c.2166C>T	NP_001131024.1:p.Asp722=
NM_001137553.1:c.1998C>T	NP_001131025.1:p.Asp666=
NM_004735.3:c.2094C>T	NP_004726.2:p.Asp698=
XM_005246112.3:c.2799C>T	XP_005246169.1:p.Asp933=
XM_005246115.3:c.2754C>T	XP_005246172.1:p.Asp918=
XM_005246116.3:c.2736C>T	XP_005246173.1:p.Asp912=
XM_005246118.3:c.2691C>T	XP_005246175.1:p.Asp897=
XM_005246119.3:c.2688C>T	XP_005246176.1:p.Asp896=
XM_005246120.3:c.2652C>T	XP_005246177.1:p.Asp884=
XM_005246121.3:c.2637C>T	XP_005246178.1:p.Asp879=
XM_005246122.3:c.2625C>T	XP_005246179.1:p.Asp875=
XM_005246124.1:c.2607C>T	XP_005246181.1:p.Asp869=
XM_005246125.3:c.2586C>T	XP_005246182.1:p.Asp862=
XM_005246126.3:c.2547C>T	XP_005246183.1:p.Asp849=
XM_005246128.1:c.2514C>T	XP_005246185.1:p.Asp838=
XM_005246129.3:c.2475C>T	XP_005246186.1:p.Asp825=
XM_005246130.3:c.2448C>T	XP_005246187.1:p.Asp816=
XM_005246131.3:c.2361C>T	XP_005246188.1:p.Asp787=
XM_005246132.3:c.2286C>T	XP_005246189.1:p.Asp762=
XM_005246133.1:c.2256C>T	XP_005246190.1:p.Asp752=
XM_005246134.1:c.2214C>T	XP_005246191.1:p.Asp738=
XM_005246135.1:c.2184C>T	XP_005246192.1:p.Asp728=
XM_005246136.1:c.2028C>T	XP_005246193.1:p.Asp676=
XM_005246141.3:c.823+3674C>T	XP_005246198.1:n.823+3674C>T
XM_005246142.1:c.751+3674C>T	XP_005246199.1:n.751+3674C>T
XM_006712842.2:c.2697C>T	XP_006712905.1:p.Asp899=
XM_006712843.2:c.2592C>T	XP_006712906.1:p.Asp864=
XM_006712844.1:c.2526C>T	XP_006712907.1:p.Asp842=
XM_006712845.2:c.2508C>T	XP_006712908.1:p.Asp836=
XM_006712846.1:c.2412C>T	XP_006712909.1:p.Asp804=
XM_006712847.1:c.2352C>T	XP_006712910.1:p.Asp784=
XM_006712848.1:c.2280C>T	XP_006712911.1:p.Asp760=
XM_011512152.1:c.2832C>T	XP_011510454.1:p.Asp944=
XM_011512153.1:c.2814C>T	XP_011510455.1:p.Asp938=
XM_011512154.1:c.2802C>T	XP_011510456.1:p.Asp934=
XM_011512155.1:c.2793C>T	XP_011510457.1:p.Asp931=
XM_011512156.1:c.2760C>T	XP_011510458.1:p.Asp920=
XM_011512157.1:c.2646C>T	XP_011510459.1:p.Asp882=
XM_011512158.1:c.2574C>T	XP_011510460.1:p.Asp858=
XM_011512159.1:c.2382C>T	XP_011510461.1:p.Asp794=
XM_011512160.1:c.1555+3674C>T	XP_011510462.1:n.1555+3674C>T
XM_011512161.1:c.1555+3674C>T	XP_011510463.1:n.1555+3674C>T
XM_011512162.1:c.1369+3674C>T	XP_011510464.1:n.1369+3674C>T
XM_011512163.1:c.1297+3674C>T	XP_011510465.1:n.1297+3674C>T
XM_011512164.1:c.751+3674C>T	XP_011510466.1:n.751+3674C>T
XM_011512165.1:c.721+3674C>T	XP_011510467.1:n.721+3674C>T
XM_011512166.1:c.1516+3674C>T	XP_011510468.1:n.1516+3674C>T
XR_923063.1:n.1605+3674C>T
XM_005246141.4:c.823+3674C>T	XP_005246198.1:n.823+3674C>T
XM_005246142.2:c.751+3674C>T	XP_005246199.1:n.751+3674C>T
XM_017005253.2:c.1522+3674C>T	XP_016860742.1:n.1522+3674C>T
XM_017005254.2:c.1522+3674C>T	XP_016860743.1:n.1522+3674C>T
XM_017005255.2:c.1450+3674C>T	XP_016860744.1:n.1450+3674C>T
XM_017005256.2:c.1336+3674C>T	XP_016860745.1:n.1336+3674C>T
XM_017005257.2:c.1387+3674C>T	XP_016860746.1:n.1387+3674C>T
XM_017005258.2:c.1336+3674C>T	XP_016860747.1:n.1336+3674C>T
XM_017005260.2:c.1162+3674C>T	XP_016860749.1:n.1162+3674C>T
XM_017005261.2:c.1099+3674C>T	XP_016860750.1:n.1099+3674C>T
XM_017005262.2:c.1099+3674C>T	XP_016860751.1:n.1099+3674C>T
XM_017005263.2:c.937+3674C>T	XP_016860752.1:n.937+3674C>T
XR_001739039.2:n.2868C>T
XR_001739040.1:n.3033C>T
XR_001739041.2:n.2829C>T
XR_001739042.2:n.2805C>T
XR_001739043.1:n.2781C>T
XR_001739044.2:n.2796C>T
XR_001739045.2:n.2766C>T
XR_001739046.1:n.3113C>T
XR_001739047.2:n.2682C>T
XR_001739048.1:n.2871C>T
XR_001739049.2:n.2616C>T
XR_001739050.2:n.2577C>T
XR_001739051.2:n.2544C>T
XR_001739052.2:n.2517C>T
XR_001739053.1:n.2506C>T
XR_001739054.1:n.2428C>T
XR_001739055.2:n.2445C>T
XR_001739056.2:n.2430C>T
XR_001739057.1:n.2446C>T
XR_001739058.1:n.2625C>T
XR_001739059.2:n.2358C>T
XR_001739060.1:n.2332C>T
XR_001739061.1:n.2374C>T
XR_001739062.1:n.2551C>T
XR_001739063.1:n.2258C>T
XR_001739064.1:n.2519C>T
XR_001739065.1:n.2463C>T
XR_001739066.1:n.2260C>T
XR_001739067.1:n.2167C>T
XR_001739068.1:n.2188C>T
XR_001739069.1:n.2365C>T
XR_001739070.1:n.2229C>T
XR_001739071.1:n.2087C>T
XR_001739072.1:n.2333C>T
XR_001739073.2:n.1591+3674C>T
XR_002959364.1:n.2259C>T
NM_001137550.2:c.1459+3674C>T MANE Select	NP_001131022.1:n.1459+3674C>T
NM_001137552.2:c.2166C>T	NP_001131024.1:p.Asp722=
NM_001137553.2:c.1998C>T	NP_001131025.1:p.Asp666=
NM_004735.4:c.2094C>T	NP_004726.2:p.Asp698=
NM_001137551.2:c.721+3674C>T	NP_001131023.1:n.721+3674C>T