Canonical Allele Identifier: CA357615827

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964515C>G (hg19) ; chr4:g.88043363C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043363C>G , CM000666.2:g.88043363C>G	GRCh38
NC_000004.11:g.88964515C>G , CM000666.1:g.88964515C>G	GRCh37
NC_000004.10:g.89183539C>G	NCBI36
NG_008604.1:g.40696C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1225C>G MANE Select	ENSP00000237596.2:p.Leu409Val
ENST00000237596.6:c.1225C>G	ENSP00000237596.2:p.Leu409Val
ENST00000506367.1:n.672C>G
ENST00000508588.5:c.-293C>G	ENSP00000427131.1:n.-293C>G
NM_000297.3:c.1225C>G	NP_000288.1:p.Leu409Val
XM_011532028.1:c.1095-3279C>G	XP_011530330.1:n.1095-3279C>G
XM_011532029.1:c.505C>G	XP_011530331.1:p.Leu169Val
XM_011532030.1:c.385C>G	XP_011530332.1:p.Leu129Val
XR_244632.2:n.1320C>G
NR_156488.1:n.1312C>G
XM_011532028.2:c.1095-3279C>G	XP_011530330.1:n.1095-3279C>G
XM_011532030.2:c.385C>G	XP_011530332.1:p.Leu129Val
NM_000297.4:c.1225C>G MANE Select	NP_000288.1:p.Leu409Val
NR_156488.2:n.1324C>G