Canonical Allele Identifier: CA357624777

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88986647G>T (hg19) ; chr4:g.88065495G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065495G>T , CM000666.2:g.88065495G>T	GRCh38
NC_000004.11:g.88986647G>T , CM000666.1:g.88986647G>T	GRCh37
NC_000004.10:g.89205671G>T	NCBI36
NG_008604.1:g.62828G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2240G>T MANE Select	ENSP00000237596.2:p.Gly747Val
ENST00000237596.6:c.2240G>T	ENSP00000237596.2:p.Gly747Val
ENST00000502363.1:c.494G>T	ENSP00000425289.1:p.Gly165Val
ENST00000508588.5:c.494G>T	ENSP00000427131.1:p.Gly165Val
ENST00000511337.5:n.492G>T
ENST00000512858.1:n.452G>T
NM_000297.3:c.2240G>T	NP_000288.1:p.Gly747Val
XM_011532028.1:c.2015G>T	XP_011530330.1:p.Gly672Val
XM_011532029.1:c.1520G>T	XP_011530331.1:p.Gly507Val
XM_011532030.1:c.1400G>T	XP_011530332.1:p.Gly467Val
NR_156488.1:n.2206G>T
XM_011532028.2:c.2015G>T	XP_011530330.1:p.Gly672Val
XM_011532030.2:c.1400G>T	XP_011530332.1:p.Gly467Val
NM_000297.4:c.2240G>T MANE Select	NP_000288.1:p.Gly747Val
NR_156488.2:n.2218G>T