Canonical Allele Identifier: CA3994882

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2191188
• ClinVar RCV Id: RCV002616783 ; RCV002616782 ; RCV003130852
• dbSNP Id: rs146976290
• ExAC: 6:129826435 G / A
• gnomAD v2: 6-129826435-G-A
• gnomAD v3: 6-129505290-G-A
• gnomAD v4: 6-129505290-G-A
• MyVariant Identifiers: chr6:g.129826435G>A (hg19) ; chr6:g.129505290G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.703G>A	ENSP00000510626.1:p.Asp235Asn
ENST00000498257.6:c.703G>A	ENSP00000510533.1:p.Asp235Asn
ENST00000617695.5:c.8626G>A	ENSP00000481744.2:p.Asp2876Asn
ENST00000618192.5:c.8902G>A	ENSP00000480802.2:p.Asp2968Asn
ENST00000688198.1:n.1616G>A
ENST00000688799.1:c.703G>A	ENSP00000508458.1:p.Asp235Asn
ENST00000690858.1:n.1632G>A
ENST00000693461.1:n.975G>A
ENST00000421865.3:c.8638G>A MANE Select	ENSP00000400365.2:p.Asp2880Asn
ENST00000421865.2:c.8638G>A	ENSP00000400365.2:p.Asp2880Asn
ENST00000617695.4:c.8626G>A	ENSP00000481744.1:p.Asp2876Asn
ENST00000618192.4:c.8635G>A	ENSP00000480802.1:p.Asp2879Asn
NM_000426.3:c.8638G>A , LRG_409t1:c.8638G>A	NP_000417.2:p.Asp2880Asn
NM_001079823.1:c.8626G>A	NP_001073291.1:p.Asp2876Asn
XM_005266981.2:c.8902G>A	XP_005267038.1:p.Asp2968Asn
XM_005266982.2:c.8890G>A	XP_005267039.1:p.Asp2964Asn
XM_011535820.1:c.8896G>A	XP_011534122.1:p.Asp2966Asn
XR_942984.1:n.1461-2499C>T
XR_942985.1:n.1325-2499C>T
XM_005266981.3:c.8902G>A	XP_005267038.1:p.Asp2968Asn
XM_005266982.3:c.8890G>A	XP_005267039.1:p.Asp2964Asn
XM_011535820.2:c.8896G>A	XP_011534122.1:p.Asp2966Asn
XM_017010851.2:c.8908G>A	XP_016866340.1:p.Asp2970Asn
XM_017010852.1:c.7033G>A	XP_016866341.1:p.Asp2345Asn
XR_001743859.1:n.3901-2499C>T
XR_001743860.1:n.1180-2499C>T
XR_001743861.1:n.1347-2499C>T
XR_001743863.1:n.883-2499C>T
XR_002956395.1:n.9132-2499C>T
XR_002956396.1:n.3127-2499C>T
NM_000426.4:c.8638G>A MANE Select	NP_000417.3:p.Asp2880Asn
NM_001079823.2:c.8626G>A	NP_001073291.2:p.Asp2876Asn