Canonical Allele Identifier: CA242952

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 196122
• ClinVar RCV Id: RCV000176866 ; RCV001089400 ; RCV004537415
• dbSNP Id: rs751192681
• ExAC: 21:47552256 C / T
• gnomAD v2: 21-47552256-C-T
• gnomAD v3: 21-46132342-C-T
• gnomAD v4: 21-46132342-C-T
• MyVariant Identifiers: chr21:g.47552256C>T (hg19) ; chr21:g.47552256_47552258delinsTGT (hg19) ; chr21:g.46132342C>T (hg38) ; chr21:g.46132342_46132344delinsTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132342C>T , CM000683.2:g.46132342C>T	GRCh38
NC_000021.8:g.47552256C>T , CM000683.1:g.47552256C>T	GRCh37
NC_000021.7:g.46376684C>T	NCBI36
NG_008675.1:g.39224C>T , LRG_476:g.39224C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2850C>T MANE Select	ENSP00000300527.4:p.Gly950=
ENST00000300527.8:c.2850C>T	ENSP00000300527.4:p.Gly950=
NM_001849.3:c.2850C>T , LRG_476t1:c.2850C>T	NP_001840.3:p.Gly950=
XM_011529451.1:c.2850C>T	XP_011527753.1:p.Gly950=
XM_011529452.1:c.2850C>T	XP_011527754.1:p.Gly950=
XR_937438.1:n.2927C>T
XR_937438.2:n.2934C>T
NM_001849.4:c.2850C>T MANE Select	NP_001840.3:p.Gly950=