Canonical Allele Identifier: CA220816

Gene: LAMA2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505344A>C , CM000668.2:g.129505344A>C	GRCh38
NC_000006.11:g.129826489A>C , CM000668.1:g.129826489A>C	GRCh37
NC_000006.10:g.129868182A>C	NCBI36
NG_008678.1:g.627204A>C , LRG_409:g.627204A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.757A>C	ENSP00000510626.1:p.Arg253=
ENST00000498257.6:c.757A>C	ENSP00000510533.1:p.Arg253=
ENST00000617695.5:c.8680A>C	ENSP00000481744.2:p.Arg2894=
ENST00000618192.5:c.8956A>C	ENSP00000480802.2:p.Arg2986=
ENST00000688198.1:n.1670A>C
ENST00000688799.1:c.757A>C	ENSP00000508458.1:p.Arg253=
ENST00000690858.1:n.1686A>C
ENST00000693461.1:n.1029A>C
ENST00000421865.3:c.8692A>C MANE Select	ENSP00000400365.2:p.Arg2898=
ENST00000421865.2:c.8692A>C	ENSP00000400365.2:p.Arg2898=
ENST00000617695.4:c.8680A>C	ENSP00000481744.1:p.Arg2894=
ENST00000618192.4:c.8689A>C	ENSP00000480802.1:p.Arg2897=
NM_000426.3:c.8692A>C , LRG_409t1:c.8692A>C	NP_000417.2:p.Arg2898=
NM_001079823.1:c.8680A>C	NP_001073291.1:p.Arg2894=
XM_005266981.2:c.8956A>C	XP_005267038.1:p.Arg2986=
XM_005266982.2:c.8944A>C	XP_005267039.1:p.Arg2982=
XM_011535820.1:c.8950A>C	XP_011534122.1:p.Arg2984=
XR_942984.1:n.1461-2553T>G
XR_942985.1:n.1325-2553T>G
XM_005266981.3:c.8956A>C	XP_005267038.1:p.Arg2986=
XM_005266982.3:c.8944A>C	XP_005267039.1:p.Arg2982=
XM_011535820.2:c.8950A>C	XP_011534122.1:p.Arg2984=
XM_017010851.2:c.8962A>C	XP_016866340.1:p.Arg2988=
XM_017010852.1:c.7087A>C	XP_016866341.1:p.Arg2363=
XR_001743859.1:n.3901-2553T>G
XR_001743860.1:n.1180-2553T>G
XR_001743861.1:n.1347-2553T>G
XR_001743863.1:n.883-2553T>G
XR_002956395.1:n.9132-2553T>G
XR_002956396.1:n.3127-2553T>G
NM_000426.4:c.8692A>C MANE Select	NP_000417.3:p.Arg2898=
NM_001079823.2:c.8680A>C	NP_001073291.2:p.Arg2894=