Canonical Allele Identifier: CA365613002

Gene: LAMA2

Linked Data

• ClinVar Variation Id: 2008956
• ClinVar RCV Id: RCV002829026
• gnomAD v4: 6-129315600-A-T
• MyVariant Identifiers: chr6:g.129636745A>T (hg19) ; chr6:g.129315600A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315600A>T , CM000668.2:g.129315600A>T	GRCh38
NC_000006.11:g.129636745A>T , CM000668.1:g.129636745A>T	GRCh37
NC_000006.10:g.129678438A>T	NCBI36
NG_008678.1:g.437460A>T , LRG_409:g.437460A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3680A>T	ENSP00000481744.2:p.Asp1227Val
ENST00000618192.5:c.3944A>T	ENSP00000480802.2:p.Asp1315Val
ENST00000421865.3:c.3680A>T MANE Select	ENSP00000400365.2:p.Asp1227Val
ENST00000421865.2:c.3680A>T	ENSP00000400365.2:p.Asp1227Val
ENST00000617695.4:c.3680A>T	ENSP00000481744.1:p.Asp1227Val
ENST00000618192.4:c.3680A>T	ENSP00000480802.1:p.Asp1227Val
NM_000426.3:c.3680A>T , LRG_409t1:c.3680A>T	NP_000417.2:p.Asp1227Val
NM_001079823.1:c.3680A>T	NP_001073291.1:p.Asp1227Val
XM_005266981.2:c.3944A>T	XP_005267038.1:p.Asp1315Val
XM_005266982.2:c.3944A>T	XP_005267039.1:p.Asp1315Val
XM_011535820.1:c.3944A>T	XP_011534122.1:p.Asp1315Val
XM_005266981.3:c.3944A>T	XP_005267038.1:p.Asp1315Val
XM_005266982.3:c.3944A>T	XP_005267039.1:p.Asp1315Val
XM_011535820.2:c.3944A>T	XP_011534122.1:p.Asp1315Val
XM_017010851.2:c.3950A>T	XP_016866340.1:p.Asp1317Val
XM_017010852.1:c.2075A>T	XP_016866341.1:p.Asp692Val
XM_017010853.1:c.3944A>T	XP_016866342.1:p.Asp1315Val
NM_000426.4:c.3680A>T MANE Select	NP_000417.3:p.Asp1227Val
NM_001079823.2:c.3680A>T	NP_001073291.2:p.Asp1227Val