Canonical Allele Identifier: CA365634161

Gene: LAMA2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129503186T>A , CM000668.2:g.129503186T>A	GRCh38
NC_000006.11:g.129824331T>A , CM000668.1:g.129824331T>A	GRCh37
NC_000006.10:g.129866024T>A	NCBI36
NG_008678.1:g.625046T>A , LRG_409:g.625046T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.518T>A	ENSP00000510626.1:p.Leu173Gln
ENST00000498257.6:c.518T>A	ENSP00000510533.1:p.Leu173Gln
ENST00000617695.5:c.8441T>A	ENSP00000481744.2:p.Leu2814Gln
ENST00000618192.5:c.8717T>A	ENSP00000480802.2:p.Leu2906Gln
ENST00000688198.1:n.1431T>A
ENST00000688799.1:c.518T>A	ENSP00000508458.1:p.Leu173Gln
ENST00000690858.1:n.1447T>A
ENST00000693461.1:n.790T>A
ENST00000421865.3:c.8453T>A MANE Select	ENSP00000400365.2:p.Leu2818Gln
ENST00000421865.2:c.8453T>A	ENSP00000400365.2:p.Leu2818Gln
ENST00000617695.4:c.8441T>A	ENSP00000481744.1:p.Leu2814Gln
ENST00000618192.4:c.8450T>A	ENSP00000480802.1:p.Leu2817Gln
NM_000426.3:c.8453T>A , LRG_409t1:c.8453T>A	NP_000417.2:p.Leu2818Gln
NM_001079823.1:c.8441T>A	NP_001073291.1:p.Leu2814Gln
XM_005266981.2:c.8717T>A	XP_005267038.1:p.Leu2906Gln
XM_005266982.2:c.8705T>A	XP_005267039.1:p.Leu2902Gln
XM_011535820.1:c.8711T>A	XP_011534122.1:p.Leu2904Gln
XR_942984.1:n.1461-395A>T
XR_942985.1:n.1325-395A>T
XM_005266981.3:c.8717T>A	XP_005267038.1:p.Leu2906Gln
XM_005266982.3:c.8705T>A	XP_005267039.1:p.Leu2902Gln
XM_011535820.2:c.8711T>A	XP_011534122.1:p.Leu2904Gln
XM_017010851.2:c.8723T>A	XP_016866340.1:p.Leu2908Gln
XM_017010852.1:c.6848T>A	XP_016866341.1:p.Leu2283Gln
XR_001743859.1:n.3901-395A>T
XR_001743860.1:n.1180-395A>T
XR_001743861.1:n.1347-395A>T
XR_001743863.1:n.883-395A>T
XR_002956395.1:n.9132-395A>T
XR_002956396.1:n.3127-395A>T
NM_000426.4:c.8453T>A MANE Select	NP_000417.3:p.Leu2818Gln
NM_001079823.2:c.8441T>A	NP_001073291.2:p.Leu2814Gln