Canonical Allele Identifier: CA365634920

Gene: LAMA2

Linked Data

• MyVariant Identifiers: chr6:g.129826444G>A (hg19) ; chr6:g.129505299G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505299G>A , CM000668.2:g.129505299G>A	GRCh38
NC_000006.11:g.129826444G>A , CM000668.1:g.129826444G>A	GRCh37
NC_000006.10:g.129868137G>A	NCBI36
NG_008678.1:g.627159G>A , LRG_409:g.627159G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.712G>A	ENSP00000510626.1:p.Gly238Arg
ENST00000498257.6:c.712G>A	ENSP00000510533.1:p.Gly238Arg
ENST00000617695.5:c.8635G>A	ENSP00000481744.2:p.Gly2879Arg
ENST00000618192.5:c.8911G>A	ENSP00000480802.2:p.Gly2971Arg
ENST00000688198.1:n.1625G>A
ENST00000688799.1:c.712G>A	ENSP00000508458.1:p.Gly238Arg
ENST00000690858.1:n.1641G>A
ENST00000693461.1:n.984G>A
ENST00000421865.3:c.8647G>A MANE Select	ENSP00000400365.2:p.Gly2883Arg
ENST00000421865.2:c.8647G>A	ENSP00000400365.2:p.Gly2883Arg
ENST00000617695.4:c.8635G>A	ENSP00000481744.1:p.Gly2879Arg
ENST00000618192.4:c.8644G>A	ENSP00000480802.1:p.Gly2882Arg
NM_000426.3:c.8647G>A , LRG_409t1:c.8647G>A	NP_000417.2:p.Gly2883Arg
NM_001079823.1:c.8635G>A	NP_001073291.1:p.Gly2879Arg
XM_005266981.2:c.8911G>A	XP_005267038.1:p.Gly2971Arg
XM_005266982.2:c.8899G>A	XP_005267039.1:p.Gly2967Arg
XM_011535820.1:c.8905G>A	XP_011534122.1:p.Gly2969Arg
XR_942984.1:n.1461-2508C>T
XR_942985.1:n.1325-2508C>T
XM_005266981.3:c.8911G>A	XP_005267038.1:p.Gly2971Arg
XM_005266982.3:c.8899G>A	XP_005267039.1:p.Gly2967Arg
XM_011535820.2:c.8905G>A	XP_011534122.1:p.Gly2969Arg
XM_017010851.2:c.8917G>A	XP_016866340.1:p.Gly2973Arg
XM_017010852.1:c.7042G>A	XP_016866341.1:p.Gly2348Arg
XR_001743859.1:n.3901-2508C>T
XR_001743860.1:n.1180-2508C>T
XR_001743861.1:n.1347-2508C>T
XR_001743863.1:n.883-2508C>T
XR_002956395.1:n.9132-2508C>T
XR_002956396.1:n.3127-2508C>T
NM_000426.4:c.8647G>A MANE Select	NP_000417.3:p.Gly2883Arg
NM_001079823.2:c.8635G>A	NP_001073291.2:p.Gly2879Arg