Canonical Allele Identifier: CA357619521

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967951T>G (hg19) ; chr4:g.88046799T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046799T>G , CM000666.2:g.88046799T>G	GRCh38
NC_000004.11:g.88967951T>G , CM000666.1:g.88967951T>G	GRCh37
NC_000004.10:g.89186975T>G	NCBI36
NG_008604.1:g.44132T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1477T>G MANE Select	ENSP00000237596.2:p.Leu493Val
ENST00000237596.6:c.1477T>G	ENSP00000237596.2:p.Leu493Val
ENST00000508588.5:c.-199+3342T>G	ENSP00000427131.1:n.-199+3342T>G
NM_000297.3:c.1477T>G	NP_000288.1:p.Leu493Val
XM_011532028.1:c.1252T>G	XP_011530330.1:p.Leu418Val
XM_011532029.1:c.757T>G	XP_011530331.1:p.Leu253Val
XM_011532030.1:c.637T>G	XP_011530332.1:p.Leu213Val
XR_244632.2:n.1572T>G
NR_156488.1:n.1564T>G
XM_011532028.2:c.1252T>G	XP_011530330.1:p.Leu418Val
XM_011532030.2:c.637T>G	XP_011530332.1:p.Leu213Val
NM_000297.4:c.1477T>G MANE Select	NP_000288.1:p.Leu493Val
NR_156488.2:n.1576T>G