Canonical Allele Identifier: CA10073100

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 476480
• ClinVar RCV Id: RCV000556569 ; RCV000733635 ; RCV000660619
• dbSNP Id: rs200200671
• ExAC: 21:47552333 T / C
• gnomAD v2: 21-47552333-T-C
• gnomAD v3: 21-46132419-T-C
• gnomAD v4: 21-46132419-T-C
• MyVariant Identifiers: chr21:g.47552333T>C (hg19) ; chr21:g.46132419T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132419T>C , CM000683.2:g.46132419T>C	GRCh38
NC_000021.8:g.47552333T>C , CM000683.1:g.47552333T>C	GRCh37
NC_000021.7:g.46376761T>C	NCBI36
NG_008675.1:g.39301T>C , LRG_476:g.39301T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.2927T>C MANE Select	ENSP00000300527.4:p.Leu976Ser
ENST00000300527.8:c.2927T>C	ENSP00000300527.4:p.Leu976Ser
NM_001849.3:c.2927T>C , LRG_476t1:c.2927T>C	NP_001840.3:p.Leu976Ser
XM_011529451.1:c.2927T>C	XP_011527753.1:p.Leu976Ser
XM_011529452.1:c.2927T>C	XP_011527754.1:p.Leu976Ser
XR_937438.1:n.3004T>C
XR_937438.2:n.3011T>C
NM_001849.4:c.2927T>C MANE Select	NP_001840.3:p.Leu976Ser