Canonical Allele Identifier: CA147499

Gene: COL6A2

Linked Data

• ClinVar Variation Id: 93952
• ClinVar RCV Id: RCV000079891 ; RCV000224012 ; RCV000341066 ; RCV000353550 ; RCV000333824 ; RCV001082806
• dbSNP Id: rs11910483
• ExAC: 21:47552449 A / C
• gnomAD v2: 21-47552449-A-C
• gnomAD v3: 21-46132535-A-C
• gnomAD v4: 21-46132535-A-C
• MyVariant Identifiers: chr21:g.47552449A>C (hg19) ; chr21:g.46132535A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132535A>C , CM000683.2:g.46132535A>C	GRCh38
NC_000021.8:g.47552449A>C , CM000683.1:g.47552449A>C	GRCh37
NC_000021.7:g.46376877A>C	NCBI36
NG_008675.1:g.39417A>C , LRG_476:g.39417A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300527.9:c.3043A>C MANE Select	ENSP00000300527.4:p.Ile1015Leu
ENST00000300527.8:c.3043A>C	ENSP00000300527.4:p.Ile1015Leu
NM_001849.3:c.3043A>C , LRG_476t1:c.3043A>C	NP_001840.3:p.Ile1015Leu
XM_011529451.1:c.3043A>C	XP_011527753.1:p.Ile1015Leu
XM_011529452.1:c.3043A>C	XP_011527754.1:p.Ile1015Leu
XR_937438.1:n.3120A>C
XR_937438.2:n.3127A>C
NM_001849.4:c.3043A>C MANE Select	NP_001840.3:p.Ile1015Leu