Canonical Allele Identifier: CA3994596

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129478778G>A , CM000668.2:g.129478778G>A	GRCh38
NC_000006.11:g.129799923G>A , CM000668.1:g.129799923G>A	GRCh37
NC_000006.10:g.129841616G>A	NCBI36
NG_008678.1:g.600638G>A , LRG_409:g.600638G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7537G>A MANE Select	NP_000417.3:p.Asp2513Asn
ENST00000421865.3:c.7537G>A MANE Select	ENSP00000400365.2:p.Asp2513Asn
NM_000426.3:c.7537G>A , LRG_409t1:c.7537G>A	NP_000417.2:p.Asp2513Asn
NM_001079823.1:c.7525G>A	NP_001073291.1:p.Asp2509Asn
NM_001079823.2:c.7525G>A	NP_001073291.2:p.Asp2509Asn
ENST00000421865.2:c.7537G>A	ENSP00000400365.2:p.Asp2513Asn
ENST00000617695.4:c.7525G>A	ENSP00000481744.1:p.Asp2509Asn
ENST00000617695.5:c.7525G>A	ENSP00000481744.2:p.Asp2509Asn
ENST00000618192.4:c.7534G>A	ENSP00000480802.1:p.Asp2512Asn
ENST00000618192.5:c.7801G>A	ENSP00000480802.2:p.Asp2601Asn
XM_005266981.2:c.7801G>A	XP_005267038.1:p.Asp2601Asn
XM_005266981.3:c.7801G>A	XP_005267038.1:p.Asp2601Asn
XM_005266982.2:c.7789G>A	XP_005267039.1:p.Asp2597Asn
XM_005266982.3:c.7789G>A	XP_005267039.1:p.Asp2597Asn
XM_011535820.1:c.7795G>A	XP_011534122.1:p.Asp2599Asn
XM_011535820.2:c.7795G>A	XP_011534122.1:p.Asp2599Asn
XM_017010851.2:c.7807G>A	XP_016866340.1:p.Asp2603Asn
XM_017010852.1:c.5932G>A	XP_016866341.1:p.Asp1978Asn