Canonical Allele Identifier: CA357616044

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964552C>T (hg19) ; chr4:g.88043400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043400C>T , CM000666.2:g.88043400C>T	GRCh38
NC_000004.11:g.88964552C>T , CM000666.1:g.88964552C>T	GRCh37
NC_000004.10:g.89183576C>T	NCBI36
NG_008604.1:g.40733C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1262C>T MANE Select	ENSP00000237596.2:p.Ala421Val
ENST00000237596.6:c.1262C>T	ENSP00000237596.2:p.Ala421Val
ENST00000508588.5:c.-256C>T	ENSP00000427131.1:n.-256C>T
NM_000297.3:c.1262C>T	NP_000288.1:p.Ala421Val
XM_011532028.1:c.1095-3242C>T	XP_011530330.1:n.1095-3242C>T
XM_011532029.1:c.542C>T	XP_011530331.1:p.Ala181Val
XM_011532030.1:c.422C>T	XP_011530332.1:p.Ala141Val
XR_244632.2:n.1357C>T
NR_156488.1:n.1349C>T
XM_011532028.2:c.1095-3242C>T	XP_011530330.1:n.1095-3242C>T
XM_011532030.2:c.422C>T	XP_011530332.1:p.Ala141Val
NM_000297.4:c.1262C>T MANE Select	NP_000288.1:p.Ala421Val
NR_156488.2:n.1361C>T