Canonical Allele Identifier: CA357619509

Gene: PKD2

Linked Data

• gnomAD v4: 4-88046797-T-C
• MyVariant Identifiers: chr4:g.88967949T>C (hg19) ; chr4:g.88046797T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046797T>C , CM000666.2:g.88046797T>C	GRCh38
NC_000004.11:g.88967949T>C , CM000666.1:g.88967949T>C	GRCh37
NC_000004.10:g.89186973T>C	NCBI36
NG_008604.1:g.44130T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1475T>C MANE Select	ENSP00000237596.2:p.Ile492Thr
ENST00000237596.6:c.1475T>C	ENSP00000237596.2:p.Ile492Thr
ENST00000508588.5:c.-199+3340T>C	ENSP00000427131.1:n.-199+3340T>C
NM_000297.3:c.1475T>C	NP_000288.1:p.Ile492Thr
XM_011532028.1:c.1250T>C	XP_011530330.1:p.Ile417Thr
XM_011532029.1:c.755T>C	XP_011530331.1:p.Ile252Thr
XM_011532030.1:c.635T>C	XP_011530332.1:p.Ile212Thr
XR_244632.2:n.1570T>C
NR_156488.1:n.1562T>C
XM_011532028.2:c.1250T>C	XP_011530330.1:p.Ile417Thr
XM_011532030.2:c.635T>C	XP_011530332.1:p.Ile212Thr
NM_000297.4:c.1475T>C MANE Select	NP_000288.1:p.Ile492Thr
NR_156488.2:n.1574T>C