Canonical Allele Identifier: CA357619862

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88968012T>C (hg19) ; chr4:g.88046860T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046860T>C , CM000666.2:g.88046860T>C	GRCh38
NC_000004.11:g.88968012T>C , CM000666.1:g.88968012T>C	GRCh37
NC_000004.10:g.89187036T>C	NCBI36
NG_008604.1:g.44193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1538T>C MANE Select	ENSP00000237596.2:p.Val513Ala
ENST00000237596.6:c.1538T>C	ENSP00000237596.2:p.Val513Ala
ENST00000508588.5:c.-199+3403T>C	ENSP00000427131.1:n.-199+3403T>C
NM_000297.3:c.1538T>C	NP_000288.1:p.Val513Ala
XM_011532028.1:c.1313T>C	XP_011530330.1:p.Val438Ala
XM_011532029.1:c.818T>C	XP_011530331.1:p.Val273Ala
XM_011532030.1:c.698T>C	XP_011530332.1:p.Val233Ala
XR_244632.2:n.1633T>C
NR_156488.1:n.1625T>C
XM_011532028.2:c.1313T>C	XP_011530330.1:p.Val438Ala
XM_011532030.2:c.698T>C	XP_011530332.1:p.Val233Ala
NM_000297.4:c.1538T>C MANE Select	NP_000288.1:p.Val513Ala
NR_156488.2:n.1637T>C