Canonical Allele Identifier: CA357619859

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88968011G>C (hg19) ; chr4:g.88046859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046859G>C , CM000666.2:g.88046859G>C	GRCh38
NC_000004.11:g.88968011G>C , CM000666.1:g.88968011G>C	GRCh37
NC_000004.10:g.89187035G>C	NCBI36
NG_008604.1:g.44192G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1537G>C MANE Select	ENSP00000237596.2:p.Val513Leu
ENST00000237596.6:c.1537G>C	ENSP00000237596.2:p.Val513Leu
ENST00000508588.5:c.-199+3402G>C	ENSP00000427131.1:n.-199+3402G>C
NM_000297.3:c.1537G>C	NP_000288.1:p.Val513Leu
XM_011532028.1:c.1312G>C	XP_011530330.1:p.Val438Leu
XM_011532029.1:c.817G>C	XP_011530331.1:p.Val273Leu
XM_011532030.1:c.697G>C	XP_011530332.1:p.Val233Leu
XR_244632.2:n.1632G>C
NR_156488.1:n.1624G>C
XM_011532028.2:c.1312G>C	XP_011530330.1:p.Val438Leu
XM_011532030.2:c.697G>C	XP_011530332.1:p.Val233Leu
NM_000297.4:c.1537G>C MANE Select	NP_000288.1:p.Val513Leu
NR_156488.2:n.1636G>C