Canonical Allele Identifier: CA1663102597
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129297828C= , CM000668.2:g.129297828C= GRCh38
NC_000006.11:g.129618973C= , CM000668.1:g.129618973C= GRCh37
NC_000006.10:g.129660666C= NCBI36
NG_008678.1:g.419688C= , LRG_409:g.419688C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.3000C= ENSP00000481744.2:p.Ala1000=
ENST00000618192.5:c.3264C= ENSP00000480802.2:p.Ala1088=
ENST00000421865.3:c.3000C= MANE Select ENSP00000400365.2:p.Ala1000=
ENST00000645154.1:c.515C=
ENST00000421865.2:c.3000C= ENSP00000400365.2:p.Ala1000=
ENST00000617695.4:c.3000C= ENSP00000481744.1:p.Ala1000=
ENST00000618192.4:c.3000C= ENSP00000480802.1:p.Ala1000=
NM_000426.3:c.3000C= , LRG_409t1:c.3000C= NP_000417.2:p.Ala1000=
NM_001079823.1:c.3000C= NP_001073291.1:p.Ala1000=
XM_005266981.2:c.3264C= XP_005267038.1:p.Ala1088=
XM_005266982.2:c.3264C= XP_005267039.1:p.Ala1088=
XM_011535820.1:c.3264C= XP_011534122.1:p.Ala1088=
XM_005266981.3:c.3264C= XP_005267038.1:p.Ala1088=
XM_005266982.3:c.3264C= XP_005267039.1:p.Ala1088=
XM_011535820.2:c.3264C= XP_011534122.1:p.Ala1088=
XM_017010851.2:c.3270C= XP_016866340.1:p.Ala1090=
XM_017010852.1:c.1395C= XP_016866341.1:p.Ala465=
XM_017010853.1:c.3264C= XP_016866342.1:p.Ala1088=
NM_000426.4:c.3000C= MANE Select NP_000417.3:p.Ala1000=
NM_001079823.2:c.3000C= NP_001073291.2:p.Ala1000=