Canonical Allele Identifier: CA357624729

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88986636A>C (hg19) ; chr4:g.88065484A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065484A>C , CM000666.2:g.88065484A>C	GRCh38
NC_000004.11:g.88986636A>C , CM000666.1:g.88986636A>C	GRCh37
NC_000004.10:g.89205660A>C	NCBI36
NG_008604.1:g.62817A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2229A>C MANE Select	ENSP00000237596.2:p.Gln743His
ENST00000237596.6:c.2229A>C	ENSP00000237596.2:p.Gln743His
ENST00000502363.1:c.483A>C	ENSP00000425289.1:p.Gln161His
ENST00000508588.5:c.483A>C	ENSP00000427131.1:p.Gln161His
ENST00000511337.5:n.481A>C
ENST00000512858.1:n.441A>C
NM_000297.3:c.2229A>C	NP_000288.1:p.Gln743His
XM_011532028.1:c.2004A>C	XP_011530330.1:p.Gln668His
XM_011532029.1:c.1509A>C	XP_011530331.1:p.Gln503His
XM_011532030.1:c.1389A>C	XP_011530332.1:p.Gln463His
NR_156488.1:n.2195A>C
XM_011532028.2:c.2004A>C	XP_011530330.1:p.Gln668His
XM_011532030.2:c.1389A>C	XP_011530332.1:p.Gln463His
NM_000297.4:c.2229A>C MANE Select	NP_000288.1:p.Gln743His
NR_156488.2:n.2207A>C