Canonical Allele Identifier: CA1663027573
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129143976C= , CM000668.2:g.129143976C= GRCh38
NC_000006.11:g.129465121C= , CM000668.1:g.129465121C= GRCh37
NC_000006.10:g.129506814C= NCBI36
NG_008678.1:g.265836C= , LRG_409:g.265836C=

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.715C= MANE Select NP_000417.3:p.Arg239=
ENST00000421865.3:c.715C= MANE Select ENSP00000400365.2:p.Arg239=
NM_000426.3:c.715C= , LRG_409t1:c.715C= NP_000417.2:p.Arg239=
NM_001079823.1:c.715C= NP_001073291.1:p.Arg239=
NM_001079823.2:c.715C= NP_001073291.2:p.Arg239=
ENST00000421865.2:c.715C= ENSP00000400365.2:p.Arg239=
ENST00000617695.4:c.715C= ENSP00000481744.1:p.Arg239=
ENST00000617695.5:c.715C= ENSP00000481744.2:p.Arg239=
ENST00000618192.4:c.715C= ENSP00000480802.1:p.Arg239=
ENST00000618192.5:c.715C= ENSP00000480802.2:p.Arg239=
ENST00000685128.1:n.244C=
ENST00000686577.1:n.781C=
ENST00000686599.1:n.820C=
ENST00000689044.1:n.605C=
ENST00000690881.1:n.178C=
XM_005266981.2:c.715C= XP_005267038.1:p.Arg239=
XM_005266981.3:c.715C= XP_005267038.1:p.Arg239=
XM_005266982.2:c.715C= XP_005267039.1:p.Arg239=
XM_005266982.3:c.715C= XP_005267039.1:p.Arg239=
XM_011535820.1:c.715C= XP_011534122.1:p.Arg239=
XM_011535820.2:c.715C= XP_011534122.1:p.Arg239=
XM_017010851.2:c.721C= XP_016866340.1:p.Arg241=
XM_017010853.1:c.715C= XP_016866342.1:p.Arg239=