Canonical Allele Identifier: CA365630624

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129491968G>T , CM000668.2:g.129491968G>T	GRCh38
NC_000006.11:g.129813113G>T , CM000668.1:g.129813113G>T	GRCh37
NC_000006.10:g.129854806G>T	NCBI36
NG_008678.1:g.613828G>T , LRG_409:g.613828G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7966G>T MANE Select	NP_000417.3:p.Glu2656Ter
ENST00000421865.3:c.7966G>T MANE Select	ENSP00000400365.2:p.Glu2656Ter
NM_000426.3:c.7966G>T , LRG_409t1:c.7966G>T	NP_000417.2:p.Glu2656Ter
NM_001079823.1:c.7954G>T	NP_001073291.1:p.Glu2652Ter
NM_001079823.2:c.7954G>T	NP_001073291.2:p.Glu2652Ter
ENST00000421865.2:c.7966G>T	ENSP00000400365.2:p.Glu2656Ter
ENST00000494137.1:n.128G>T
ENST00000494137.2:c.31G>T	ENSP00000510626.1:p.Glu11Ter
ENST00000498257.5:n.279G>T
ENST00000498257.6:c.31G>T	ENSP00000510533.1:p.Glu11Ter
ENST00000617695.4:c.7954G>T	ENSP00000481744.1:p.Glu2652Ter
ENST00000617695.5:c.7954G>T	ENSP00000481744.2:p.Glu2652Ter
ENST00000618192.4:c.7963G>T	ENSP00000480802.1:p.Glu2655Ter
ENST00000618192.5:c.8230G>T	ENSP00000480802.2:p.Glu2744Ter
ENST00000688198.1:n.944G>T
ENST00000688799.1:c.31G>T	ENSP00000508458.1:p.Glu11Ter
ENST00000690858.1:n.960G>T
XM_005266981.2:c.8230G>T	XP_005267038.1:p.Glu2744Ter
XM_005266981.3:c.8230G>T	XP_005267038.1:p.Glu2744Ter
XM_005266982.2:c.8218G>T	XP_005267039.1:p.Glu2740Ter
XM_005266982.3:c.8218G>T	XP_005267039.1:p.Glu2740Ter
XM_011535820.1:c.8224G>T	XP_011534122.1:p.Glu2742Ter
XM_011535820.2:c.8224G>T	XP_011534122.1:p.Glu2742Ter
XM_017010851.2:c.8236G>T	XP_016866340.1:p.Glu2746Ter
XM_017010852.1:c.6361G>T	XP_016866341.1:p.Glu2121Ter