Canonical Allele Identifier: CA236432
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191318
dbSNP Id: rs786205642

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46125812G>A , CM000683.2:g.46125812G>A GRCh38
NC_000021.8:g.47545726G>A , CM000683.1:g.47545726G>A GRCh37
NC_000021.7:g.46370154G>A NCBI36
NG_008675.1:g.32694G>A , LRG_476:g.32694G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000397763.6:c.1997G>A MANE Plus Clinical ENSP00000380870.1:p.Ser666Asn
ENST00000300527.9:c.1997G>A MANE Select ENSP00000300527.4:p.Ser666Asn
ENST00000409416.6:c.1997G>A ENSP00000387115.1:p.Ser666Asn
ENST00000300527.8:c.1997G>A ENSP00000300527.4:p.Ser666Asn
ENST00000310645.9:c.1997G>A ENSP00000312529.5:p.Ser666Asn
ENST00000397763.5:c.1997G>A ENSP00000380870.1:p.Ser666Asn
ENST00000409416.5:c.1997G>A ENSP00000387115.1:p.Ser666Asn
ENST00000413758.1:c.668G>A ENSP00000395751.1:p.Ser223Asn
NM_001849.3:c.1997G>A , LRG_476t1:c.1997G>A NP_001840.3:p.Ser666Asn
NM_058174.2:c.1997G>A NP_478054.2:p.Ser666Asn
NM_058175.2:c.1997G>A NP_478055.2:p.Ser666Asn
XM_011529451.1:c.1997G>A XP_011527753.1:p.Ser666Asn
XM_011529452.1:c.1997G>A XP_011527754.1:p.Ser666Asn
XR_937438.1:n.2074G>A
XR_937439.1:n.2074G>A
XR_937438.2:n.2081G>A
XR_937439.2:n.2081G>A
NM_001849.4:c.1997G>A MANE Select NP_001840.3:p.Ser666Asn
NM_058174.3:c.1997G>A MANE Plus Clinical NP_478054.2:p.Ser666Asn
NM_058175.3:c.1997G>A NP_478055.2:p.Ser666Asn