Canonical Allele Identifier: CA357632846

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959536T>C (hg19) ; chr4:g.88038384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038384T>C , CM000666.2:g.88038384T>C	GRCh38
NC_000004.11:g.88959536T>C , CM000666.1:g.88959536T>C	GRCh37
NC_000004.10:g.89178560T>C	NCBI36
NG_008604.1:g.35717T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.977T>C MANE Select	ENSP00000237596.2:p.Val326Ala
ENST00000237596.6:c.977T>C	ENSP00000237596.2:p.Val326Ala
ENST00000506367.1:n.424T>C
NM_000297.3:c.977T>C	NP_000288.1:p.Val326Ala
XM_011532028.1:c.977T>C	XP_011530330.1:p.Val326Ala
XM_011532029.1:c.257T>C	XP_011530331.1:p.Val86Ala
XM_011532030.1:c.137T>C	XP_011530332.1:p.Val46Ala
XR_244632.2:n.1072T>C
NR_156488.1:n.1064T>C
XM_011532028.2:c.977T>C	XP_011530330.1:p.Val326Ala
XM_011532030.2:c.137T>C	XP_011530332.1:p.Val46Ala
NM_000297.4:c.977T>C MANE Select	NP_000288.1:p.Val326Ala
NR_156488.2:n.1076T>C