Canonical Allele Identifier: CA2392499405
Gene: COL6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46113909C= , CM000683.2:g.46113909C= GRCh38
NC_000021.8:g.47533823C= , CM000683.1:g.47533823C= GRCh37
NC_000021.7:g.46358251C= NCBI36
NG_008675.1:g.20791C= , LRG_476:g.20791C=

Transcript Alleles

HGVS Amino-acid change
ENST00000397763.6:c.736-99C= MANE Plus Clinical ENSP00000380870.1:n.736-99C=
ENST00000300527.9:c.736-99C= MANE Select ENSP00000300527.4:n.736-99C=
ENST00000409416.6:c.736-99C= ENSP00000387115.1:n.736-99C=
ENST00000300527.8:c.736-99C= ENSP00000300527.4:n.736-99C=
ENST00000310645.9:c.736-99C= ENSP00000312529.5:n.736-99C=
ENST00000397763.5:c.736-99C= ENSP00000380870.1:n.736-99C=
ENST00000409416.5:c.736-99C= ENSP00000387115.1:n.736-99C=
ENST00000485591.1:n.293C=
NM_001849.3:c.736-99C= , LRG_476t1:c.736-99C= NP_001840.3:n.736-99C=
NM_058174.2:c.736-99C= NP_478054.2:n.736-99C=
NM_058175.2:c.736-99C= NP_478055.2:n.736-99C=
XM_011529451.1:c.736-99C= XP_011527753.1:n.736-99C=
XM_011529452.1:c.736-99C= XP_011527754.1:n.736-99C=
XR_937438.1:n.859-99C=
XR_937439.1:n.859-99C=
XR_937438.2:n.866-99C=
XR_937439.2:n.866-99C=
NM_001849.4:c.736-99C= MANE Select NP_001840.3:n.736-99C=
NM_058174.3:c.736-99C= MANE Plus Clinical NP_478054.2:n.736-99C=
NM_058175.3:c.736-99C= NP_478055.2:n.736-99C=