Canonical Allele Identifier: CA1663188427
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129460287C= , CM000668.2:g.129460287C= GRCh38
NC_000006.11:g.129781432C= , CM000668.1:g.129781432C= GRCh37
NC_000006.10:g.129823125C= NCBI36
NG_008678.1:g.582147C= , LRG_409:g.582147C=

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.6955C= MANE Select NP_000417.3:p.Arg2319=
ENST00000421865.3:c.6955C= MANE Select ENSP00000400365.2:p.Arg2319=
NM_000426.3:c.6955C= , LRG_409t1:c.6955C= NP_000417.2:p.Arg2319=
NM_001079823.1:c.6955C= NP_001073291.1:p.Arg2319=
NM_001079823.2:c.6955C= NP_001073291.2:p.Arg2319=
ENST00000421865.2:c.6955C= ENSP00000400365.2:p.Arg2319=
ENST00000617695.4:c.6955C= ENSP00000481744.1:p.Arg2319=
ENST00000617695.5:c.6955C= ENSP00000481744.2:p.Arg2319=
ENST00000618192.4:c.6952C= ENSP00000480802.1:p.Arg2318=
ENST00000618192.5:c.7219C= ENSP00000480802.2:p.Arg2407=
ENST00000684985.1:n.586C=
ENST00000688150.1:n.294C=
XM_005266981.2:c.7219C= XP_005267038.1:p.Arg2407=
XM_005266981.3:c.7219C= XP_005267038.1:p.Arg2407=
XM_005266982.2:c.7219C= XP_005267039.1:p.Arg2407=
XM_005266982.3:c.7219C= XP_005267039.1:p.Arg2407=
XM_011535820.1:c.7213C= XP_011534122.1:p.Arg2405=
XM_011535820.2:c.7213C= XP_011534122.1:p.Arg2405=
XM_017010851.2:c.7225C= XP_016866340.1:p.Arg2409=
XM_017010852.1:c.5350C= XP_016866341.1:p.Arg1784=