Canonical Allele Identifier: CA242943

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 196117
• ClinVar RCV Id: RCV000241740 ; RCV000294726 ; RCV000351968 ; RCV000724665 ; RCV001086781
• dbSNP Id: rs111341650
• ExAC: 21:47552157 G / T
• gnomAD v2: 21-47552157-G-T
• gnomAD v3: 21-46132243-G-T
• gnomAD v4: 21-46132243-G-T
• MyVariant Identifiers: chr21:g.47552157G>T (hg19) ; chr21:g.46132243G>T (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132243G>T , CM000683.2:g.46132243G>T	GRCh38
NC_000021.8:g.47552157G>T , CM000683.1:g.47552157G>T	GRCh37
NC_000021.7:g.46376585G>T	NCBI36
NG_008675.1:g.39125G>T , LRG_476:g.39125G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2751G>T MANE Select	ENSP00000300527.4:p.Val917=
ENST00000300527.8:c.2751G>T	ENSP00000300527.4:p.Val917=
NM_001849.3:c.2751G>T , LRG_476t1:c.2751G>T	NP_001840.3:p.Val917=
XM_011529451.1:c.2751G>T	XP_011527753.1:p.Val917=
XM_011529452.1:c.2751G>T	XP_011527754.1:p.Val917=
XR_937438.1:n.2828G>T
XR_937438.2:n.2835G>T
NM_001849.4:c.2751G>T MANE Select	NP_001840.3:p.Val917=