Canonical Allele Identifier: CA67905161
Gene: LRRFIP1 HGNC NCBI

Linked Data

dbSNP Id: rs11689421
gnomAD v2: 2-238650689-T-C
gnomAD v3: 2-237742046-T-C
gnomAD v4: 2-237742046-T-C
MyVariant Identifiers: chr2:g.238650689T>C (hg19) chr2:g.237742046T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237742046T>C , CM000664.2:g.237742046T>C GRCh38
NC_000002.11:g.238650689T>C , CM000664.1:g.238650689T>C GRCh37
NC_000002.10:g.238315428T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000698097.1:c.427+2737T>C
ENST00000698098.1:c.201+2737T>C ENSP00000513562.1:n.201+2737T>C
ENST00000308482.14:c.633+2737T>C MANE Select ENSP00000310109.9:n.633+2737T>C
ENST00000244815.9:c.250-6318T>C ENSP00000244815.5:n.250-6318T>C
ENST00000289175.10:c.154-6318T>C ENSP00000289175.6:n.154-6318T>C
ENST00000308482.13:c.633+2737T>C ENSP00000310109.9:n.633+2737T>C
ENST00000392000.4:c.250-6318T>C ENSP00000375857.4:n.250-6318T>C
ENST00000420665.5:c.310-6318T>C ENSP00000409431.1:n.310-6318T>C
ENST00000498053.5:n.180-6318T>C
NM_001137550.1:c.633+2737T>C NP_001131022.1:n.633+2737T>C
NM_001137551.1:c.154-6318T>C NP_001131023.1:n.154-6318T>C
NM_001137552.1:c.250-6318T>C NP_001131024.1:n.250-6318T>C
NM_001137553.1:c.154-6318T>C NP_001131025.1:n.154-6318T>C
NM_004735.3:c.250-6318T>C NP_004726.2:n.250-6318T>C
XM_005246112.3:c.696+2737T>C XP_005246169.1:n.696+2737T>C
XM_005246115.3:c.651+2737T>C XP_005246172.1:n.651+2737T>C
XM_005246116.3:c.633+2737T>C XP_005246173.1:n.633+2737T>C
XM_005246118.3:c.588+2737T>C XP_005246175.1:n.588+2737T>C
XM_005246119.3:c.585+2737T>C XP_005246176.1:n.585+2737T>C
XM_005246120.3:c.549+2737T>C XP_005246177.1:n.549+2737T>C
XM_005246121.3:c.534+2737T>C XP_005246178.1:n.534+2737T>C
XM_005246122.3:c.522+2737T>C XP_005246179.1:n.522+2737T>C
XM_005246124.1:c.504+2737T>C XP_005246181.1:n.504+2737T>C
XM_005246125.3:c.483+2737T>C XP_005246182.1:n.483+2737T>C
XM_005246126.3:c.445-6318T>C XP_005246183.1:n.445-6318T>C
XM_005246128.1:c.483+2737T>C XP_005246185.1:n.483+2737T>C
XM_005246129.3:c.445-6318T>C XP_005246186.1:n.445-6318T>C
XM_005246130.3:c.346-6318T>C XP_005246187.1:n.346-6318T>C
XM_005246131.3:c.445-6318T>C XP_005246188.1:n.445-6318T>C
XM_005246132.3:c.184-6318T>C XP_005246189.1:n.184-6318T>C
XM_005246133.1:c.154-6318T>C XP_005246190.1:n.154-6318T>C
XM_005246134.1:c.184-6318T>C XP_005246191.1:n.184-6318T>C
XM_005246135.1:c.154-6318T>C XP_005246192.1:n.154-6318T>C
XM_005246136.1:c.184-6318T>C XP_005246193.1:n.184-6318T>C
XM_005246141.3:c.184-6318T>C XP_005246198.1:n.184-6318T>C
XM_005246142.1:c.184-6318T>C XP_005246199.1:n.184-6318T>C
XM_006712842.2:c.594+2737T>C XP_006712905.1:n.594+2737T>C
XM_006712843.2:c.489+2737T>C XP_006712906.1:n.489+2737T>C
XM_006712844.1:c.423+2737T>C XP_006712907.1:n.423+2737T>C
XM_006712845.2:c.406-6318T>C XP_006712908.1:n.406-6318T>C
XM_006712846.1:c.310-6318T>C XP_006712909.1:n.310-6318T>C
XM_006712847.1:c.250-6318T>C XP_006712910.1:n.250-6318T>C
XM_006712848.1:c.250-6318T>C XP_006712911.1:n.250-6318T>C
XM_011512152.1:c.729+2737T>C XP_011510454.1:n.729+2737T>C
XM_011512153.1:c.711+2737T>C XP_011510455.1:n.711+2737T>C
XM_011512154.1:c.699+2737T>C XP_011510456.1:n.699+2737T>C
XM_011512155.1:c.690+2737T>C XP_011510457.1:n.690+2737T>C
XM_011512156.1:c.729+2737T>C XP_011510458.1:n.729+2737T>C
XM_011512157.1:c.729+2737T>C XP_011510459.1:n.729+2737T>C
XM_011512158.1:c.729+2737T>C XP_011510460.1:n.729+2737T>C
XM_011512159.1:c.280-6318T>C XP_011510461.1:n.280-6318T>C
XM_011512160.1:c.729+2737T>C XP_011510462.1:n.729+2737T>C
XM_011512161.1:c.729+2737T>C XP_011510463.1:n.729+2737T>C
XM_011512162.1:c.729+2737T>C XP_011510464.1:n.729+2737T>C
XM_011512163.1:c.729+2737T>C XP_011510465.1:n.729+2737T>C
XM_011512164.1:c.184-6318T>C XP_011510466.1:n.184-6318T>C
XM_011512165.1:c.154-6318T>C XP_011510467.1:n.154-6318T>C
XM_011512166.1:c.690+2737T>C XP_011510468.1:n.690+2737T>C
XR_923063.1:n.779+2737T>C
XM_005246141.4:c.184-6318T>C XP_005246198.1:n.184-6318T>C
XM_005246142.2:c.184-6318T>C XP_005246199.1:n.184-6318T>C
XM_017005253.2:c.696+2737T>C XP_016860742.1:n.696+2737T>C
XM_017005254.2:c.696+2737T>C XP_016860743.1:n.696+2737T>C
XM_017005255.2:c.696+2737T>C XP_016860744.1:n.696+2737T>C
XM_017005256.2:c.696+2737T>C XP_016860745.1:n.696+2737T>C
XM_017005257.2:c.633+2737T>C XP_016860746.1:n.633+2737T>C
XM_017005258.2:c.696+2737T>C XP_016860747.1:n.696+2737T>C
XM_017005260.2:c.594+2737T>C XP_016860749.1:n.594+2737T>C
XM_017005261.2:c.346-6318T>C XP_016860750.1:n.346-6318T>C
XM_017005262.2:c.346-6318T>C XP_016860751.1:n.346-6318T>C
XM_017005263.2:c.184-6318T>C XP_016860752.1:n.184-6318T>C
XR_001739039.2:n.765+2737T>C
XR_001739040.1:n.930+2737T>C
XR_001739041.2:n.726+2737T>C
XR_001739042.2:n.702+2737T>C
XR_001739043.1:n.678+2737T>C
XR_001739044.2:n.765+2737T>C
XR_001739045.2:n.663+2737T>C
XR_001739046.1:n.1010+2737T>C
XR_001739047.2:n.765+2737T>C
XR_001739048.1:n.768+2737T>C
XR_001739049.2:n.514-6318T>C
XR_001739050.2:n.475-6318T>C
XR_001739051.2:n.514-6318T>C
XR_001739052.2:n.415-6318T>C
XR_001739053.1:n.404-6318T>C
XR_001739054.1:n.326-6318T>C
XR_001739055.2:n.415-6318T>C
XR_001739056.2:n.514-6318T>C
XR_001739057.1:n.344-6318T>C
XR_001739058.1:n.595-6318T>C
XR_001739059.2:n.514-6318T>C
XR_001739060.1:n.230-6318T>C
XR_001739061.1:n.344-6318T>C
XR_001739062.1:n.449-6318T>C
XR_001739063.1:n.228-6318T>C
XR_001739064.1:n.489-6318T>C
XR_001739065.1:n.361-6318T>C
XR_001739066.1:n.344-6318T>C
XR_001739067.1:n.323-6318T>C
XR_001739068.1:n.344-6318T>C
XR_001739069.1:n.449-6318T>C
XR_001739070.1:n.199-6318T>C
XR_001739071.1:n.243-6318T>C
XR_001739072.1:n.489-6318T>C
XR_001739073.2:n.765+2737T>C
XR_002959364.1:n.415-6318T>C
NM_001137550.2:c.633+2737T>C MANE Select NP_001131022.1:n.633+2737T>C
NM_001137552.2:c.250-6318T>C NP_001131024.1:n.250-6318T>C
NM_001137553.2:c.154-6318T>C NP_001131025.1:n.154-6318T>C
NM_004735.4:c.250-6318T>C NP_004726.2:n.250-6318T>C
NM_001137551.2:c.154-6318T>C NP_001131023.1:n.154-6318T>C
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