Canonical Allele Identifier: CA50308726

Gene: PROKR1 APLF

Linked Data

• dbSNP Id: rs945096101
• gnomAD v3: 2-68653322-A-G
• gnomAD v4: 2-68653322-A-G
• MyVariant Identifiers: chr2:g.68880454A>G (hg19) ; chr2:g.68653322A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.68653322A>G , CM000664.2:g.68653322A>G	GRCh38
NC_000002.11:g.68880454A>G , CM000664.1:g.68880454A>G	GRCh37
NC_000002.10:g.68733958A>G	NCBI36
NG_051312.1:g.14735A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303786.5:c.486-1558A>G (PROKR1) MANE Select	ENSP00000303775.4:n.486-1558A>G
ENST00000303786.4:c.486-1558A>G (PROKR1)	ENSP00000303775.3:n.486-1558A>G
ENST00000394342.2:c.486-1558A>G (APLF)	ENSP00000377874.2:n.486-1558A>G
ENST00000627740.1:n.1198-1558A>G (APLF)
NM_138964.2:c.486-1558A>G (PROKR1)	NP_620414.1:n.486-1558A>G
NM_138964.3:c.486-1558A>G (PROKR1)	NP_620414.1:n.486-1558A>G
NM_138964.4:c.486-1558A>G (PROKR1) MANE Select	NP_620414.1:n.486-1558A>G