Canonical Allele Identifier: CA3994972
Gene: LAMA2 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129512425A>T , CM000668.2:g.129512425A>T GRCh38
NC_000006.11:g.129833570A>T , CM000668.1:g.129833570A>T GRCh37
NC_000006.10:g.129875263A>T NCBI36
NG_008678.1:g.634285A>T , LRG_409:g.634285A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.985A>T ENSP00000510626.1:p.Thr329Ser
ENST00000498257.6:c.985A>T ENSP00000510533.1:p.Thr329Ser
ENST00000617695.5:c.8908A>T ENSP00000481744.2:p.Thr2970Ser
ENST00000618192.5:c.9184A>T ENSP00000480802.2:p.Thr3062Ser
ENST00000688198.1:n.1898A>T
ENST00000688799.1:c.985A>T ENSP00000508458.1:p.Thr329Ser
ENST00000690858.1:n.1914A>T
ENST00000693461.1:n.1257A>T
ENST00000421865.3:c.8920A>T MANE Select ENSP00000400365.2:p.Thr2974Ser
ENST00000421865.2:c.8920A>T ENSP00000400365.2:p.Thr2974Ser
ENST00000617695.4:c.8908A>T ENSP00000481744.1:p.Thr2970Ser
ENST00000618192.4:c.8917A>T ENSP00000480802.1:p.Thr2973Ser
NM_000426.3:c.8920A>T , LRG_409t1:c.8920A>T NP_000417.2:p.Thr2974Ser
NM_001079823.1:c.8908A>T NP_001073291.1:p.Thr2970Ser
XM_005266981.2:c.9184A>T XP_005267038.1:p.Thr3062Ser
XM_005266982.2:c.9172A>T XP_005267039.1:p.Thr3058Ser
XM_011535820.1:c.9178A>T XP_011534122.1:p.Thr3060Ser
XR_942984.1:n.1461-9634T>A
XR_942985.1:n.1325-9634T>A
XM_005266981.3:c.9184A>T XP_005267038.1:p.Thr3062Ser
XM_005266982.3:c.9172A>T XP_005267039.1:p.Thr3058Ser
XM_011535820.2:c.9178A>T XP_011534122.1:p.Thr3060Ser
XM_017010851.2:c.9190A>T XP_016866340.1:p.Thr3064Ser
XM_017010852.1:c.7315A>T XP_016866341.1:p.Thr2439Ser
XR_001743859.1:n.3901-9634T>A
XR_001743860.1:n.1180-9634T>A
XR_001743861.1:n.1347-9634T>A
XR_001743863.1:n.883-9634T>A
XR_002956395.1:n.9132-9634T>A
XR_002956396.1:n.3127-9634T>A
NM_000426.4:c.8920A>T MANE Select NP_000417.3:p.Thr2974Ser
NM_001079823.2:c.8908A>T NP_001073291.2:p.Thr2970Ser