Canonical Allele Identifier: CA12036533

Gene: P4HA2

Linked Data

• dbSNP Id: rs460089
• gnomAD v2: 5-131629772-C-G
• gnomAD v3: 5-132294079-C-G
• gnomAD v4: 5-132294079-C-G
• MyVariant Identifiers: chr5:g.131629772C>G (hg19) ; chr5:g.132294079C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132294079C>G , CM000667.2:g.132294079C>G	GRCh38
NC_000005.9:g.131629772C>G , CM000667.1:g.131629772C>G	GRCh37
NC_000005.8:g.131657671C>G	NCBI36
NG_012129.1:g.4628C>G
NG_012129.2:g.4628C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000431054.5:c.78+1099G>C	ENSP00000391257.1:n.78+1099G>C
ENST00000471826.1:n.138+1099G>C