Canonical Allele Identifier: CA3995011

Gene: LAMA2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129514385G>C , CM000668.2:g.129514385G>C	GRCh38
NC_000006.11:g.129835530G>C , CM000668.1:g.129835530G>C	GRCh37
NC_000006.10:g.129877223G>C	NCBI36
NG_008678.1:g.636245G>C , LRG_409:g.636245G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.1066G>C	ENSP00000510626.1:p.Val356Leu
ENST00000498257.6:c.1066G>C	ENSP00000510533.1:p.Val356Leu
ENST00000617695.5:c.8989G>C	ENSP00000481744.2:p.Val2997Leu
ENST00000618192.5:c.9265G>C	ENSP00000480802.2:p.Val3089Leu
ENST00000688198.1:n.1979G>C
ENST00000688799.1:c.1066G>C	ENSP00000508458.1:p.Val356Leu
ENST00000690858.1:n.3874G>C
ENST00000693461.1:n.1338G>C
ENST00000421865.3:c.9001G>C MANE Select	ENSP00000400365.2:p.Val3001Leu
ENST00000421865.2:c.9001G>C	ENSP00000400365.2:p.Val3001Leu
ENST00000617695.4:c.8989G>C	ENSP00000481744.1:p.Val2997Leu
ENST00000618192.4:c.8998G>C	ENSP00000480802.1:p.Val3000Leu
NM_000426.3:c.9001G>C , LRG_409t1:c.9001G>C	NP_000417.2:p.Val3001Leu
NM_001079823.1:c.8989G>C	NP_001073291.1:p.Val2997Leu
XM_005266981.2:c.9265G>C	XP_005267038.1:p.Val3089Leu
XM_005266982.2:c.9253G>C	XP_005267039.1:p.Val3085Leu
XM_011535820.1:c.9259G>C	XP_011534122.1:p.Val3087Leu
XR_942984.1:n.1460+8092C>G
XR_942985.1:n.1324+8092C>G
XM_005266981.3:c.9265G>C	XP_005267038.1:p.Val3089Leu
XM_005266982.3:c.9253G>C	XP_005267039.1:p.Val3085Leu
XM_011535820.2:c.9259G>C	XP_011534122.1:p.Val3087Leu
XM_017010851.2:c.9271G>C	XP_016866340.1:p.Val3091Leu
XM_017010852.1:c.7396G>C	XP_016866341.1:p.Val2466Leu
XR_001743859.1:n.3900+8092C>G
XR_001743860.1:n.1179+8092C>G
XR_001743861.1:n.1346+8092C>G
XR_001743863.1:n.883-11594C>G
XR_002956395.1:n.9131+8092C>G
XR_002956396.1:n.3126+8092C>G
NM_000426.4:c.9001G>C MANE Select	NP_000417.3:p.Val3001Leu
NM_001079823.2:c.8989G>C	NP_001073291.2:p.Val2997Leu