Canonical Allele Identifier: CA357619510

Gene: PKD2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1475T>G MANE Select	ENSP00000237596.2:p.Ile492Arg
ENST00000237596.6:c.1475T>G	ENSP00000237596.2:p.Ile492Arg
ENST00000508588.5:c.-199+3340T>G	ENSP00000427131.1:n.-199+3340T>G
NM_000297.3:c.1475T>G	NP_000288.1:p.Ile492Arg
XM_011532028.1:c.1250T>G	XP_011530330.1:p.Ile417Arg
XM_011532029.1:c.755T>G	XP_011530331.1:p.Ile252Arg
XM_011532030.1:c.635T>G	XP_011530332.1:p.Ile212Arg
XR_244632.2:n.1570T>G
NR_156488.1:n.1562T>G
XM_011532028.2:c.1250T>G	XP_011530330.1:p.Ile417Arg
XM_011532030.2:c.635T>G	XP_011530332.1:p.Ile212Arg
NM_000297.4:c.1475T>G MANE Select	NP_000288.1:p.Ile492Arg
NR_156488.2:n.1574T>G