Canonical Allele Identifier: CA3994959

Gene: LAMA2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129512395G>T , CM000668.2:g.129512395G>T	GRCh38
NC_000006.11:g.129833540G>T , CM000668.1:g.129833540G>T	GRCh37
NC_000006.10:g.129875233G>T	NCBI36
NG_008678.1:g.634255G>T , LRG_409:g.634255G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.955G>T	ENSP00000510626.1:p.Val319Leu
ENST00000498257.6:c.955G>T	ENSP00000510533.1:p.Val319Leu
ENST00000617695.5:c.8878G>T	ENSP00000481744.2:p.Val2960Leu
ENST00000618192.5:c.9154G>T	ENSP00000480802.2:p.Val3052Leu
ENST00000688198.1:n.1868G>T
ENST00000688799.1:c.955G>T	ENSP00000508458.1:p.Val319Leu
ENST00000690858.1:n.1884G>T
ENST00000693461.1:n.1227G>T
ENST00000421865.3:c.8890G>T MANE Select	ENSP00000400365.2:p.Val2964Leu
ENST00000421865.2:c.8890G>T	ENSP00000400365.2:p.Val2964Leu
ENST00000617695.4:c.8878G>T	ENSP00000481744.1:p.Val2960Leu
ENST00000618192.4:c.8887G>T	ENSP00000480802.1:p.Val2963Leu
NM_000426.3:c.8890G>T , LRG_409t1:c.8890G>T	NP_000417.2:p.Val2964Leu
NM_001079823.1:c.8878G>T	NP_001073291.1:p.Val2960Leu
XM_005266981.2:c.9154G>T	XP_005267038.1:p.Val3052Leu
XM_005266982.2:c.9142G>T	XP_005267039.1:p.Val3048Leu
XM_011535820.1:c.9148G>T	XP_011534122.1:p.Val3050Leu
XR_942984.1:n.1461-9604C>A
XR_942985.1:n.1325-9604C>A
XM_005266981.3:c.9154G>T	XP_005267038.1:p.Val3052Leu
XM_005266982.3:c.9142G>T	XP_005267039.1:p.Val3048Leu
XM_011535820.2:c.9148G>T	XP_011534122.1:p.Val3050Leu
XM_017010851.2:c.9160G>T	XP_016866340.1:p.Val3054Leu
XM_017010852.1:c.7285G>T	XP_016866341.1:p.Val2429Leu
XR_001743859.1:n.3901-9604C>A
XR_001743860.1:n.1180-9604C>A
XR_001743861.1:n.1347-9604C>A
XR_001743863.1:n.883-9604C>A
XR_002956395.1:n.9132-9604C>A
XR_002956396.1:n.3127-9604C>A
NM_000426.4:c.8890G>T MANE Select	NP_000417.3:p.Val2964Leu
NM_001079823.2:c.8878G>T	NP_001073291.2:p.Val2960Leu