Canonical Allele Identifier: CA10071446
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285965
dbSNP Id: rs375288629

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46114001G>A , CM000683.2:g.46114001G>A GRCh38
NC_000021.8:g.47533915G>A , CM000683.1:g.47533915G>A GRCh37
NC_000021.7:g.46358343G>A NCBI36
NG_008675.1:g.20883G>A , LRG_476:g.20883G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.736-7G>A MANE Plus Clinical ENSP00000380870.1:n.736-7G>A
ENST00000300527.9:c.736-7G>A MANE Select ENSP00000300527.4:n.736-7G>A
ENST00000409416.6:c.736-7G>A ENSP00000387115.1:n.736-7G>A
ENST00000300527.8:c.736-7G>A ENSP00000300527.4:n.736-7G>A
ENST00000310645.9:c.736-7G>A ENSP00000312529.5:n.736-7G>A
ENST00000397763.5:c.736-7G>A ENSP00000380870.1:n.736-7G>A
ENST00000409416.5:c.736-7G>A ENSP00000387115.1:n.736-7G>A
ENST00000485591.1:n.385G>A
NM_001849.3:c.736-7G>A , LRG_476t1:c.736-7G>A NP_001840.3:n.736-7G>A
NM_058174.2:c.736-7G>A NP_478054.2:n.736-7G>A
NM_058175.2:c.736-7G>A NP_478055.2:n.736-7G>A
XM_011529451.1:c.736-7G>A XP_011527753.1:n.736-7G>A
XM_011529452.1:c.736-7G>A XP_011527754.1:n.736-7G>A
XR_937438.1:n.859-7G>A
XR_937439.1:n.859-7G>A
XR_937438.2:n.866-7G>A
XR_937439.2:n.866-7G>A
NM_001849.4:c.736-7G>A MANE Select NP_001840.3:n.736-7G>A
NM_058174.3:c.736-7G>A MANE Plus Clinical NP_478054.2:n.736-7G>A
NM_058175.3:c.736-7G>A NP_478055.2:n.736-7G>A