Canonical Allele Identifier: CA365609478

Gene: LAMA2

Linked Data

• gnomAD v4: 6-129250119-C-A
• MyVariant Identifiers: chr6:g.129571264C>A (hg19) ; chr6:g.129250119C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129250119C>A , CM000668.2:g.129250119C>A	GRCh38
NC_000006.11:g.129571264C>A , CM000668.1:g.129571264C>A	GRCh37
NC_000006.10:g.129612957C>A	NCBI36
NG_008678.1:g.371979C>A , LRG_409:g.371979C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.1790C>A	ENSP00000481744.2:p.Ala597Glu
ENST00000618192.5:c.1790C>A	ENSP00000480802.2:p.Ala597Glu
ENST00000421865.3:c.1790C>A MANE Select	ENSP00000400365.2:p.Ala597Glu
ENST00000421865.2:c.1790C>A	ENSP00000400365.2:p.Ala597Glu
ENST00000617695.4:c.1790C>A	ENSP00000481744.1:p.Ala597Glu
ENST00000618192.4:c.1790C>A	ENSP00000480802.1:p.Ala597Glu
NM_000426.3:c.1790C>A , LRG_409t1:c.1790C>A	NP_000417.2:p.Ala597Glu
NM_001079823.1:c.1790C>A	NP_001073291.1:p.Ala597Glu
XM_005266981.2:c.1790C>A	XP_005267038.1:p.Ala597Glu
XM_005266982.2:c.1790C>A	XP_005267039.1:p.Ala597Glu
XM_011535820.1:c.1790C>A	XP_011534122.1:p.Ala597Glu
XM_005266981.3:c.1790C>A	XP_005267038.1:p.Ala597Glu
XM_005266982.3:c.1790C>A	XP_005267039.1:p.Ala597Glu
XM_011535820.2:c.1790C>A	XP_011534122.1:p.Ala597Glu
XM_017010851.2:c.1796C>A	XP_016866340.1:p.Ala599Glu
XM_017010852.1:c.-80C>A	XP_016866341.1:n.-80C>A
XM_017010853.1:c.1790C>A	XP_016866342.1:p.Ala597Glu
NM_000426.4:c.1790C>A MANE Select	NP_000417.3:p.Ala597Glu
NM_001079823.2:c.1790C>A	NP_001073291.2:p.Ala597Glu