Canonical Allele Identifier: CA10588713
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265525
ClinVar RCV Id: RCV000254951 RCV000560338 RCV002227464
dbSNP Id: rs201854898
gnomAD v2: 21-47552300-G-C
gnomAD v3: 21-46132386-G-C
gnomAD v4: 21-46132386-G-C
MyVariant Identifiers: chr21:g.47552300G>C (hg19) chr21:g.46132386G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132386G>C , CM000683.2:g.46132386G>C GRCh38
NC_000021.8:g.47552300G>C , CM000683.1:g.47552300G>C GRCh37
NC_000021.7:g.46376728G>C NCBI36
NG_008675.1:g.39268G>C , LRG_476:g.39268G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300527.9:c.2894G>C MANE Select ENSP00000300527.4:p.Arg965Pro
ENST00000300527.8:c.2894G>C ENSP00000300527.4:p.Arg965Pro
NM_001849.3:c.2894G>C , LRG_476t1:c.2894G>C NP_001840.3:p.Arg965Pro
XM_011529451.1:c.2894G>C XP_011527753.1:p.Arg965Pro
XM_011529452.1:c.2894G>C XP_011527754.1:p.Arg965Pro
XR_937438.1:n.2971G>C
XR_937438.2:n.2978G>C
NM_001849.4:c.2894G>C MANE Select NP_001840.3:p.Arg965Pro
Search 100 bp 5'
Search 100 bp 3'