Canonical Allele Identifier: CA440263148

Gene: PKD2

Linked Data

• dbSNP Id: rs1290672241
• gnomAD v3: 4-88046672-T-C
• gnomAD v4: 4-88046672-T-C
• MyVariant Identifiers: chr4:g.88967824T>C (hg19) ; chr4:g.88046672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046672T>C , CM000666.2:g.88046672T>C	GRCh38
NC_000004.11:g.88967824T>C , CM000666.1:g.88967824T>C	GRCh37
NC_000004.10:g.89186848T>C	NCBI36
NG_008604.1:g.44005T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1350T>C MANE Select	ENSP00000237596.2:p.Gly450=
ENST00000237596.6:c.1350T>C	ENSP00000237596.2:p.Gly450=
ENST00000508588.5:c.-199+3215T>C	ENSP00000427131.1:n.-199+3215T>C
NM_000297.3:c.1350T>C	NP_000288.1:p.Gly450=
XM_011532028.1:c.1125T>C	XP_011530330.1:p.Gly375=
XM_011532029.1:c.630T>C	XP_011530331.1:p.Gly210=
XM_011532030.1:c.510T>C	XP_011530332.1:p.Gly170=
XR_244632.2:n.1445T>C
NR_156488.1:n.1437T>C
XM_011532028.2:c.1125T>C	XP_011530330.1:p.Gly375=
XM_011532030.2:c.510T>C	XP_011530332.1:p.Gly170=
NM_000297.4:c.1350T>C MANE Select	NP_000288.1:p.Gly450=
NR_156488.2:n.1449T>C