Canonical Allele Identifier: CA10653101
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340399
ClinVar RCV Id: RCV000270460 RCV000325493 RCV000360015 RCV001712072
dbSNP Id: rs1043962
gnomAD v2: 21-47552585-A-G
gnomAD v3: 21-46132671-A-G
gnomAD v4: 21-46132671-A-G
MyVariant Identifiers: chr21:g.47552585A>G (hg19) chr21:g.46132671A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132671A>G , CM000683.2:g.46132671A>G GRCh38
NC_000021.8:g.47552585A>G , CM000683.1:g.47552585A>G GRCh37
NC_000021.7:g.46377013A>G NCBI36
NG_008675.1:g.39553A>G , LRG_476:g.39553A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300527.9:c.*119A>G MANE Select ENSP00000300527.4:n.*119A>G
ENST00000300527.8:c.*119A>G ENSP00000300527.4:n.*119A>G
NM_001849.3:c.*119A>G , LRG_476t1:c.*119A>G NP_001840.3:n.*119A>G
XM_011529451.1:c.*119A>G XP_011527753.1:n.*119A>G
XM_011529452.1:c.*119A>G XP_011527754.1:n.*119A>G
XR_937438.1:n.3256A>G
XR_937438.2:n.3263A>G
NM_001849.4:c.*119A>G MANE Select NP_001840.3:n.*119A>G
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