Canonical Allele Identifier: CA365625039

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129475394A>T , CM000668.2:g.129475394A>T	GRCh38
NC_000006.11:g.129796539A>T , CM000668.1:g.129796539A>T	GRCh37
NC_000006.10:g.129838232A>T	NCBI36
NG_008678.1:g.597254A>T , LRG_409:g.597254A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7444A>T MANE Select	NP_000417.3:p.Lys2482Ter
ENST00000421865.3:c.7444A>T MANE Select	ENSP00000400365.2:p.Lys2482Ter
NM_000426.3:c.7444A>T , LRG_409t1:c.7444A>T	NP_000417.2:p.Lys2482Ter
NM_001079823.1:c.7439+2042A>T	NP_001073291.1:n.7439+2042A>T
NM_001079823.2:c.7439+2042A>T	NP_001073291.2:n.7439+2042A>T
ENST00000421865.2:c.7444A>T	ENSP00000400365.2:p.Lys2482Ter
ENST00000617695.4:c.7439+2042A>T	ENSP00000481744.1:n.7439+2042A>T
ENST00000617695.5:c.7439+2042A>T	ENSP00000481744.2:n.7439+2042A>T
ENST00000618192.4:c.7441A>T	ENSP00000480802.1:p.Lys2481Ter
ENST00000618192.5:c.7708A>T	ENSP00000480802.2:p.Lys2570Ter
XM_005266981.2:c.7708A>T	XP_005267038.1:p.Lys2570Ter
XM_005266981.3:c.7708A>T	XP_005267038.1:p.Lys2570Ter
XM_005266982.2:c.7703+2042A>T	XP_005267039.1:n.7703+2042A>T
XM_005266982.3:c.7703+2042A>T	XP_005267039.1:n.7703+2042A>T
XM_011535820.1:c.7702A>T	XP_011534122.1:p.Lys2568Ter
XM_011535820.2:c.7702A>T	XP_011534122.1:p.Lys2568Ter
XM_017010851.2:c.7714A>T	XP_016866340.1:p.Lys2572Ter
XM_017010852.1:c.5839A>T	XP_016866341.1:p.Lys1947Ter