Canonical Allele Identifier: CA3994436

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 431964
• ClinVar RCV Id: RCV000498487 ; RCV000763555 ; RCV000815600 ; RCV000665940
• dbSNP Id: rs762806915
• ExAC: 6:129785516 C / A
• gnomAD v2: 6-129785516-C-A
• gnomAD v3: 6-129464371-C-A
• gnomAD v4: 6-129464371-C-A
• MyVariant Identifiers: chr6:g.129785516C>A (hg19) ; chr6:g.129464371C>A (hg38)
• PubMed: PMID:9674786 ; PMID:11369186

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129464371C>A , CM000668.2:g.129464371C>A	GRCh38
NC_000006.11:g.129785516C>A , CM000668.1:g.129785516C>A	GRCh37
NC_000006.10:g.129827209C>A	NCBI36
NG_008678.1:g.586231C>A , LRG_409:g.586231C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7074C>A	ENSP00000481744.2:p.Tyr2358Ter
ENST00000618192.5:c.7338C>A	ENSP00000480802.2:p.Tyr2446Ter
ENST00000684985.1:n.705C>A
ENST00000688150.1:n.413C>A
ENST00000421865.3:c.7074C>A MANE Select	ENSP00000400365.2:p.Tyr2358Ter
ENST00000421865.2:c.7074C>A	ENSP00000400365.2:p.Tyr2358Ter
ENST00000617695.4:c.7074C>A	ENSP00000481744.1:p.Tyr2358Ter
ENST00000618192.4:c.7071C>A	ENSP00000480802.1:p.Tyr2357Ter
NM_000426.3:c.7074C>A , LRG_409t1:c.7074C>A	NP_000417.2:p.Tyr2358Ter
NM_001079823.1:c.7074C>A	NP_001073291.1:p.Tyr2358Ter
XM_005266981.2:c.7338C>A	XP_005267038.1:p.Tyr2446Ter
XM_005266982.2:c.7338C>A	XP_005267039.1:p.Tyr2446Ter
XM_011535820.1:c.7332C>A	XP_011534122.1:p.Tyr2444Ter
XM_005266981.3:c.7338C>A	XP_005267038.1:p.Tyr2446Ter
XM_005266982.3:c.7338C>A	XP_005267039.1:p.Tyr2446Ter
XM_011535820.2:c.7332C>A	XP_011534122.1:p.Tyr2444Ter
XM_017010851.2:c.7344C>A	XP_016866340.1:p.Tyr2448Ter
XM_017010852.1:c.5469C>A	XP_016866341.1:p.Tyr1823Ter
NM_000426.4:c.7074C>A MANE Select	NP_000417.3:p.Tyr2358Ter
NM_001079823.2:c.7074C>A	NP_001073291.2:p.Tyr2358Ter