Canonical Allele Identifier: CA440268423

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88986642C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065490C>A , CM000666.2:g.88065490C>A	GRCh38
NC_000004.11:g.88986642C>A , CM000666.1:g.88986642C>A	GRCh37
NC_000004.10:g.89205666C>A	NCBI36
NG_008604.1:g.62823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2235C>A MANE Select	ENSP00000237596.2:p.Leu745=
ENST00000237596.6:c.2235C>A	ENSP00000237596.2:p.Leu745=
ENST00000502363.1:c.489C>A	ENSP00000425289.1:p.Leu163=
ENST00000508588.5:c.489C>A	ENSP00000427131.1:p.Leu163=
ENST00000511337.5:n.487C>A
ENST00000512858.1:n.447C>A
NM_000297.3:c.2235C>A	NP_000288.1:p.Leu745=
XM_011532028.1:c.2010C>A	XP_011530330.1:p.Leu670=
XM_011532029.1:c.1515C>A	XP_011530331.1:p.Leu505=
XM_011532030.1:c.1395C>A	XP_011530332.1:p.Leu465=
NR_156488.1:n.2201C>A
XM_011532028.2:c.2010C>A	XP_011530330.1:p.Leu670=
XM_011532030.2:c.1395C>A	XP_011530332.1:p.Leu465=
NM_000297.4:c.2235C>A MANE Select	NP_000288.1:p.Leu745=
NR_156488.2:n.2213C>A