Canonical Allele Identifier: CA440263304

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967938G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046786G>C , CM000666.2:g.88046786G>C	GRCh38
NC_000004.11:g.88967938G>C , CM000666.1:g.88967938G>C	GRCh37
NC_000004.10:g.89186962G>C	NCBI36
NG_008604.1:g.44119G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1464G>C MANE Select	ENSP00000237596.2:p.Val488=
ENST00000237596.6:c.1464G>C	ENSP00000237596.2:p.Val488=
ENST00000508588.5:c.-199+3329G>C	ENSP00000427131.1:n.-199+3329G>C
NM_000297.3:c.1464G>C	NP_000288.1:p.Val488=
XM_011532028.1:c.1239G>C	XP_011530330.1:p.Val413=
XM_011532029.1:c.744G>C	XP_011530331.1:p.Val248=
XM_011532030.1:c.624G>C	XP_011530332.1:p.Val208=
XR_244632.2:n.1559G>C
NR_156488.1:n.1551G>C
XM_011532028.2:c.1239G>C	XP_011530330.1:p.Val413=
XM_011532030.2:c.624G>C	XP_011530332.1:p.Val208=
NM_000297.4:c.1464G>C MANE Select	NP_000288.1:p.Val488=
NR_156488.2:n.1563G>C