Canonical Allele Identifier: CA365634906
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129505291A>T , CM000668.2:g.129505291A>T GRCh38
NC_000006.11:g.129826436A>T , CM000668.1:g.129826436A>T GRCh37
NC_000006.10:g.129868129A>T NCBI36
NG_008678.1:g.627151A>T , LRG_409:g.627151A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.704A>T ENSP00000510626.1:p.Asp235Val
ENST00000498257.6:c.704A>T ENSP00000510533.1:p.Asp235Val
ENST00000617695.5:c.8627A>T ENSP00000481744.2:p.Asp2876Val
ENST00000618192.5:c.8903A>T ENSP00000480802.2:p.Asp2968Val
ENST00000688198.1:n.1617A>T
ENST00000688799.1:c.704A>T ENSP00000508458.1:p.Asp235Val
ENST00000690858.1:n.1633A>T
ENST00000693461.1:n.976A>T
ENST00000421865.3:c.8639A>T MANE Select ENSP00000400365.2:p.Asp2880Val
ENST00000421865.2:c.8639A>T ENSP00000400365.2:p.Asp2880Val
ENST00000617695.4:c.8627A>T ENSP00000481744.1:p.Asp2876Val
ENST00000618192.4:c.8636A>T ENSP00000480802.1:p.Asp2879Val
NM_000426.3:c.8639A>T , LRG_409t1:c.8639A>T NP_000417.2:p.Asp2880Val
NM_001079823.1:c.8627A>T NP_001073291.1:p.Asp2876Val
XM_005266981.2:c.8903A>T XP_005267038.1:p.Asp2968Val
XM_005266982.2:c.8891A>T XP_005267039.1:p.Asp2964Val
XM_011535820.1:c.8897A>T XP_011534122.1:p.Asp2966Val
XR_942984.1:n.1461-2500T>A
XR_942985.1:n.1325-2500T>A
XM_005266981.3:c.8903A>T XP_005267038.1:p.Asp2968Val
XM_005266982.3:c.8891A>T XP_005267039.1:p.Asp2964Val
XM_011535820.2:c.8897A>T XP_011534122.1:p.Asp2966Val
XM_017010851.2:c.8909A>T XP_016866340.1:p.Asp2970Val
XM_017010852.1:c.7034A>T XP_016866341.1:p.Asp2345Val
XR_001743859.1:n.3901-2500T>A
XR_001743860.1:n.1180-2500T>A
XR_001743861.1:n.1347-2500T>A
XR_001743863.1:n.883-2500T>A
XR_002956395.1:n.9132-2500T>A
XR_002956396.1:n.3127-2500T>A
NM_000426.4:c.8639A>T MANE Select NP_000417.3:p.Asp2880Val
NM_001079823.2:c.8627A>T NP_001073291.2:p.Asp2876Val