Canonical Allele Identifier: CA357618643

Gene: PKD2

Linked Data

• ClinVar Variation Id: 1413894
• ClinVar RCV Id: RCV001945143
• dbSNP Id: rs2110115819
• MyVariant Identifiers: chr4:g.88967840C>T (hg19) ; chr4:g.88046688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046688C>T , CM000666.2:g.88046688C>T	GRCh38
NC_000004.11:g.88967840C>T , CM000666.1:g.88967840C>T	GRCh37
NC_000004.10:g.89186864C>T	NCBI36
NG_008604.1:g.44021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1366C>T MANE Select	ENSP00000237596.2:p.Gln456Ter
ENST00000237596.6:c.1366C>T	ENSP00000237596.2:p.Gln456Ter
ENST00000508588.5:c.-199+3231C>T	ENSP00000427131.1:n.-199+3231C>T
NM_000297.3:c.1366C>T	NP_000288.1:p.Gln456Ter
XM_011532028.1:c.1141C>T	XP_011530330.1:p.Gln381Ter
XM_011532029.1:c.646C>T	XP_011530331.1:p.Gln216Ter
XM_011532030.1:c.526C>T	XP_011530332.1:p.Gln176Ter
XR_244632.2:n.1461C>T
NR_156488.1:n.1453C>T
XM_011532028.2:c.1141C>T	XP_011530330.1:p.Gln381Ter
XM_011532030.2:c.526C>T	XP_011530332.1:p.Gln176Ter
NM_000297.4:c.1366C>T MANE Select	NP_000288.1:p.Gln456Ter
NR_156488.2:n.1465C>T