Canonical Allele Identifier: CA10073073

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 497520
• ClinVar RCV Id: RCV000593505 ; RCV001236809 ; RCV001139299 ; RCV004530660
• dbSNP Id: rs750097119
• ExAC: 21:47552285 C / T
• gnomAD v2: 21-47552285-C-T
• gnomAD v3: 21-46132371-C-T
• gnomAD v4: 21-46132371-C-T
• MyVariant Identifiers: chr21:g.47552285C>T (hg19) ; chr21:g.46132371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132371C>T , CM000683.2:g.46132371C>T	GRCh38
NC_000021.8:g.47552285C>T , CM000683.1:g.47552285C>T	GRCh37
NC_000021.7:g.46376713C>T	NCBI36
NG_008675.1:g.39253C>T , LRG_476:g.39253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2879C>T MANE Select	ENSP00000300527.4:p.Ser960Leu
ENST00000300527.8:c.2879C>T	ENSP00000300527.4:p.Ser960Leu
NM_001849.3:c.2879C>T , LRG_476t1:c.2879C>T	NP_001840.3:p.Ser960Leu
XM_011529451.1:c.2879C>T	XP_011527753.1:p.Ser960Leu
XM_011529452.1:c.2879C>T	XP_011527754.1:p.Ser960Leu
XR_937438.1:n.2956C>T
XR_937438.2:n.2963C>T
NM_001849.4:c.2879C>T MANE Select	NP_001840.3:p.Ser960Leu