Canonical Allele Identifier: CA2392512496
Community Standard Title: NM_001849.4(COL6A2):c.2489G= (p.Arg830=)
Gene: COL6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46131981G= , CM000683.2:g.46131981G= GRCh38
NC_000021.8:g.47551895G= , CM000683.1:g.47551895G= GRCh37
NC_000021.7:g.46376323G= NCBI36
NG_008675.1:g.38863G= , LRG_476:g.38863G=

Transcript Alleles

HGVS Amino-acid Change
NM_001849.4:c.2489G= MANE Select NP_001840.3:p.Arg830=
ENST00000300527.9:c.2489G= MANE Select ENSP00000300527.4:p.Arg830=
NM_001849.3:c.2489G= , LRG_476t1:c.2489G= NP_001840.3:p.Arg830=
ENST00000300527.8:c.2489G= ENSP00000300527.4:p.Arg830=
XM_011529451.1:c.2489G= XP_011527753.1:p.Arg830=
XM_011529452.1:c.2489G= XP_011527754.1:p.Arg830=
XR_937438.1:n.2566G=
XR_937438.2:n.2573G=