Canonical Allele Identifier: CA353500968

Gene: PROK2

Linked Data

• dbSNP Id: rs1301833544
• gnomAD v2: 3-71830631-G-A
• gnomAD v4: 3-71781480-G-A
• MyVariant Identifiers: chr3:g.71830631G>A (hg19) ; chr3:g.71781480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.71781480G>A , CM000665.2:g.71781480G>A	GRCh38
NC_000003.11:g.71830631G>A , CM000665.1:g.71830631G>A	GRCh37
NC_000003.10:g.71913321G>A	NCBI36
NG_008275.1:g.8727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295619.4:c.209C>T MANE Select	ENSP00000295619.3:p.Pro70Leu
ENST00000295619.3:c.209C>T	ENSP00000295619.3:p.Pro70Leu
ENST00000353065.7:c.209C>T	ENSP00000295618.3:p.Pro70Leu
NM_001126128.1:c.209C>T	NP_001119600.1:p.Pro70Leu
NM_021935.3:c.209C>T	NP_068754.1:p.Pro70Leu
XM_017006974.1:c.149C>T	XP_016862463.1:p.Pro50Leu
NM_001126128.2:c.209C>T MANE Select	NP_001119600.1:p.Pro70Leu
NM_021935.4:c.209C>T	NP_068754.1:p.Pro70Leu