Canonical Allele Identifier: CA3994750

Gene: LAMA2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129492386G>A , CM000668.2:g.129492386G>A	GRCh38
NC_000006.11:g.129813531G>A , CM000668.1:g.129813531G>A	GRCh37
NC_000006.10:g.129855224G>A	NCBI36
NG_008678.1:g.614246G>A , LRG_409:g.614246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.212G>A	ENSP00000510626.1:p.Arg71His
ENST00000498257.6:c.212G>A	ENSP00000510533.1:p.Arg71His
ENST00000617695.5:c.8135G>A	ENSP00000481744.2:p.Arg2712His
ENST00000618192.5:c.8411G>A	ENSP00000480802.2:p.Arg2804His
ENST00000688198.1:n.1125G>A
ENST00000688799.1:c.212G>A	ENSP00000508458.1:p.Arg71His
ENST00000690858.1:n.1141G>A
ENST00000421865.3:c.8147G>A MANE Select	ENSP00000400365.2:p.Arg2716His
ENST00000421865.2:c.8147G>A	ENSP00000400365.2:p.Arg2716His
ENST00000494137.1:n.309G>A
ENST00000498257.5:n.460G>A
ENST00000617695.4:c.8135G>A	ENSP00000481744.1:p.Arg2712His
ENST00000618192.4:c.8144G>A	ENSP00000480802.1:p.Arg2715His
NM_000426.3:c.8147G>A , LRG_409t1:c.8147G>A	NP_000417.2:p.Arg2716His
NM_001079823.1:c.8135G>A	NP_001073291.1:p.Arg2712His
XM_005266981.2:c.8411G>A	XP_005267038.1:p.Arg2804His
XM_005266982.2:c.8399G>A	XP_005267039.1:p.Arg2800His
XM_011535820.1:c.8405G>A	XP_011534122.1:p.Arg2802His
XM_005266981.3:c.8411G>A	XP_005267038.1:p.Arg2804His
XM_005266982.3:c.8399G>A	XP_005267039.1:p.Arg2800His
XM_011535820.2:c.8405G>A	XP_011534122.1:p.Arg2802His
XM_017010851.2:c.8417G>A	XP_016866340.1:p.Arg2806His
XM_017010852.1:c.6542G>A	XP_016866341.1:p.Arg2181His
NM_000426.4:c.8147G>A MANE Select	NP_000417.3:p.Arg2716His
NM_001079823.2:c.8135G>A	NP_001073291.2:p.Arg2712His