Canonical Allele Identifier: CA365634903

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 1510526
• ClinVar RCV Id: RCV002013937
• dbSNP Id: rs146976290
• gnomAD v4: 6-129505290-G-T
• MyVariant Identifiers: chr6:g.129826435G>T (hg19) ; chr6:g.129505290G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505290G>T , CM000668.2:g.129505290G>T	GRCh38
NC_000006.11:g.129826435G>T , CM000668.1:g.129826435G>T	GRCh37
NC_000006.10:g.129868128G>T	NCBI36
NG_008678.1:g.627150G>T , LRG_409:g.627150G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.703G>T	ENSP00000510626.1:p.Asp235Tyr
ENST00000498257.6:c.703G>T	ENSP00000510533.1:p.Asp235Tyr
ENST00000617695.5:c.8626G>T	ENSP00000481744.2:p.Asp2876Tyr
ENST00000618192.5:c.8902G>T	ENSP00000480802.2:p.Asp2968Tyr
ENST00000688198.1:n.1616G>T
ENST00000688799.1:c.703G>T	ENSP00000508458.1:p.Asp235Tyr
ENST00000690858.1:n.1632G>T
ENST00000693461.1:n.975G>T
ENST00000421865.3:c.8638G>T MANE Select	ENSP00000400365.2:p.Asp2880Tyr
ENST00000421865.2:c.8638G>T	ENSP00000400365.2:p.Asp2880Tyr
ENST00000617695.4:c.8626G>T	ENSP00000481744.1:p.Asp2876Tyr
ENST00000618192.4:c.8635G>T	ENSP00000480802.1:p.Asp2879Tyr
NM_000426.3:c.8638G>T , LRG_409t1:c.8638G>T	NP_000417.2:p.Asp2880Tyr
NM_001079823.1:c.8626G>T	NP_001073291.1:p.Asp2876Tyr
XM_005266981.2:c.8902G>T	XP_005267038.1:p.Asp2968Tyr
XM_005266982.2:c.8890G>T	XP_005267039.1:p.Asp2964Tyr
XM_011535820.1:c.8896G>T	XP_011534122.1:p.Asp2966Tyr
XR_942984.1:n.1461-2499C>A
XR_942985.1:n.1325-2499C>A
XM_005266981.3:c.8902G>T	XP_005267038.1:p.Asp2968Tyr
XM_005266982.3:c.8890G>T	XP_005267039.1:p.Asp2964Tyr
XM_011535820.2:c.8896G>T	XP_011534122.1:p.Asp2966Tyr
XM_017010851.2:c.8908G>T	XP_016866340.1:p.Asp2970Tyr
XM_017010852.1:c.7033G>T	XP_016866341.1:p.Asp2345Tyr
XR_001743859.1:n.3901-2499C>A
XR_001743860.1:n.1180-2499C>A
XR_001743861.1:n.1347-2499C>A
XR_001743863.1:n.883-2499C>A
XR_002956395.1:n.9132-2499C>A
XR_002956396.1:n.3127-2499C>A
NM_000426.4:c.8638G>T MANE Select	NP_000417.3:p.Asp2880Tyr
NM_001079823.2:c.8626G>T	NP_001073291.2:p.Asp2876Tyr