Canonical Allele Identifier: CA3994429

Gene: LAMA2

Linked Data

• dbSNP Id: rs548483084
• ExAC: 6:129785500 G / T
• gnomAD v2: 6-129785500-G-T
• gnomAD v4: 6-129464355-G-T
• MyVariant Identifiers: chr6:g.129785500G>T (hg19) ; chr6:g.129464355G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129464355G>T , CM000668.2:g.129464355G>T	GRCh38
NC_000006.11:g.129785500G>T , CM000668.1:g.129785500G>T	GRCh37
NC_000006.10:g.129827193G>T	NCBI36
NG_008678.1:g.586215G>T , LRG_409:g.586215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.7058G>T	ENSP00000481744.2:p.Arg2353Leu
ENST00000618192.5:c.7322G>T	ENSP00000480802.2:p.Arg2441Leu
ENST00000684985.1:n.689G>T
ENST00000688150.1:n.397G>T
ENST00000421865.3:c.7058G>T MANE Select	ENSP00000400365.2:p.Arg2353Leu
ENST00000421865.2:c.7058G>T	ENSP00000400365.2:p.Arg2353Leu
ENST00000617695.4:c.7058G>T	ENSP00000481744.1:p.Arg2353Leu
ENST00000618192.4:c.7055G>T	ENSP00000480802.1:p.Arg2352Leu
NM_000426.3:c.7058G>T , LRG_409t1:c.7058G>T	NP_000417.2:p.Arg2353Leu
NM_001079823.1:c.7058G>T	NP_001073291.1:p.Arg2353Leu
XM_005266981.2:c.7322G>T	XP_005267038.1:p.Arg2441Leu
XM_005266982.2:c.7322G>T	XP_005267039.1:p.Arg2441Leu
XM_011535820.1:c.7316G>T	XP_011534122.1:p.Arg2439Leu
XM_005266981.3:c.7322G>T	XP_005267038.1:p.Arg2441Leu
XM_005266982.3:c.7322G>T	XP_005267039.1:p.Arg2441Leu
XM_011535820.2:c.7316G>T	XP_011534122.1:p.Arg2439Leu
XM_017010851.2:c.7328G>T	XP_016866340.1:p.Arg2443Leu
XM_017010852.1:c.5453G>T	XP_016866341.1:p.Arg1818Leu
NM_000426.4:c.7058G>T MANE Select	NP_000417.3:p.Arg2353Leu
NM_001079823.2:c.7058G>T	NP_001073291.2:p.Arg2353Leu