Canonical Allele Identifier: CA357618536

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967823G>C (hg19) ; chr4:g.88046671G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046671G>C , CM000666.2:g.88046671G>C	GRCh38
NC_000004.11:g.88967823G>C , CM000666.1:g.88967823G>C	GRCh37
NC_000004.10:g.89186847G>C	NCBI36
NG_008604.1:g.44004G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1349G>C MANE Select	ENSP00000237596.2:p.Gly450Ala
ENST00000237596.6:c.1349G>C	ENSP00000237596.2:p.Gly450Ala
ENST00000508588.5:c.-199+3214G>C	ENSP00000427131.1:n.-199+3214G>C
NM_000297.3:c.1349G>C	NP_000288.1:p.Gly450Ala
XM_011532028.1:c.1124G>C	XP_011530330.1:p.Gly375Ala
XM_011532029.1:c.629G>C	XP_011530331.1:p.Gly210Ala
XM_011532030.1:c.509G>C	XP_011530332.1:p.Gly170Ala
XR_244632.2:n.1444G>C
NR_156488.1:n.1436G>C
XM_011532028.2:c.1124G>C	XP_011530330.1:p.Gly375Ala
XM_011532030.2:c.509G>C	XP_011530332.1:p.Gly170Ala
NM_000297.4:c.1349G>C MANE Select	NP_000288.1:p.Gly450Ala
NR_156488.2:n.1448G>C