Canonical Allele Identifier: CA1663178223
Gene: LAMA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129486612C= , CM000668.2:g.129486612C= GRCh38
NC_000006.11:g.129807757C= , CM000668.1:g.129807757C= GRCh37
NC_000006.10:g.129849450C= NCBI36
NG_008678.1:g.608472C= , LRG_409:g.608472C=

Transcript Alleles

HGVS Amino-acid Change
NM_000426.4:c.7888C= MANE Select NP_000417.3:p.Arg2630=
ENST00000421865.3:c.7888C= MANE Select ENSP00000400365.2:p.Arg2630=
NM_000426.3:c.7888C= , LRG_409t1:c.7888C= NP_000417.2:p.Arg2630=
NM_001079823.1:c.7876C= NP_001073291.1:p.Arg2626=
NM_001079823.2:c.7876C= NP_001073291.2:p.Arg2626=
ENST00000421865.2:c.7888C= ENSP00000400365.2:p.Arg2630=
ENST00000617695.4:c.7876C= ENSP00000481744.1:p.Arg2626=
ENST00000617695.5:c.7876C= ENSP00000481744.2:p.Arg2626=
ENST00000618192.4:c.7885C= ENSP00000480802.1:p.Arg2629=
ENST00000618192.5:c.8152C= ENSP00000480802.2:p.Arg2718=
ENST00000688198.1:n.866C=
XM_005266981.2:c.8152C= XP_005267038.1:p.Arg2718=
XM_005266981.3:c.8152C= XP_005267038.1:p.Arg2718=
XM_005266982.2:c.8140C= XP_005267039.1:p.Arg2714=
XM_005266982.3:c.8140C= XP_005267039.1:p.Arg2714=
XM_011535820.1:c.8146C= XP_011534122.1:p.Arg2716=
XM_011535820.2:c.8146C= XP_011534122.1:p.Arg2716=
XM_017010851.2:c.8158C= XP_016866340.1:p.Arg2720=
XM_017010852.1:c.6283C= XP_016866341.1:p.Arg2095=