Canonical Allele Identifier: CA365628472

Gene: LAMA2

Linked Data

• COSMIC: COSM1073153
• MyVariant Identifiers: chr6:g.129802584G>T (hg19) ; chr6:g.129481439G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129481439G>T , CM000668.2:g.129481439G>T	GRCh38
NC_000006.11:g.129802584G>T , CM000668.1:g.129802584G>T	GRCh37
NC_000006.10:g.129844277G>T	NCBI36
NG_008678.1:g.603299G>T , LRG_409:g.603299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7737G>T	ENSP00000481744.2:p.Gln2579His
ENST00000618192.5:c.8013G>T	ENSP00000480802.2:p.Gln2671His
ENST00000421865.3:c.7749G>T MANE Select	ENSP00000400365.2:p.Gln2583His
ENST00000421865.2:c.7749G>T	ENSP00000400365.2:p.Gln2583His
ENST00000617695.4:c.7737G>T	ENSP00000481744.1:p.Gln2579His
ENST00000618192.4:c.7746G>T	ENSP00000480802.1:p.Gln2582His
NM_000426.3:c.7749G>T , LRG_409t1:c.7749G>T	NP_000417.2:p.Gln2583His
NM_001079823.1:c.7737G>T	NP_001073291.1:p.Gln2579His
XM_005266981.2:c.8013G>T	XP_005267038.1:p.Gln2671His
XM_005266982.2:c.8001G>T	XP_005267039.1:p.Gln2667His
XM_011535820.1:c.8007G>T	XP_011534122.1:p.Gln2669His
XM_005266981.3:c.8013G>T	XP_005267038.1:p.Gln2671His
XM_005266982.3:c.8001G>T	XP_005267039.1:p.Gln2667His
XM_011535820.2:c.8007G>T	XP_011534122.1:p.Gln2669His
XM_017010851.2:c.8019G>T	XP_016866340.1:p.Gln2673His
XM_017010852.1:c.6144G>T	XP_016866341.1:p.Gln2048His
NM_000426.4:c.7749G>T MANE Select	NP_000417.3:p.Gln2583His
NM_001079823.2:c.7737G>T	NP_001073291.2:p.Gln2579His