Canonical Allele Identifier: CA84786780

Gene: PCOLCE2

Linked Data

• dbSNP Id: rs1036915947
• gnomAD v3: 3-142816327-T-C
• gnomAD v4: 3-142816327-T-C
• MyVariant Identifiers: chr3:g.142535169T>C (hg19) ; chr3:g.142816327T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142816327T>C , CM000665.2:g.142816327T>C	GRCh38
NC_000003.11:g.142535169T>C , CM000665.1:g.142535169T>C	GRCh37
NC_000003.10:g.144017859T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000470310.5:c.648+208A>G	ENSP00000419643.1:n.648+208A>G