Canonical Allele Identifier: CA357615796

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964507T>C (hg19) ; chr4:g.88043355T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043355T>C , CM000666.2:g.88043355T>C	GRCh38
NC_000004.11:g.88964507T>C , CM000666.1:g.88964507T>C	GRCh37
NC_000004.10:g.89183531T>C	NCBI36
NG_008604.1:g.40688T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.1217T>C MANE Select	ENSP00000237596.2:p.Val406Ala
ENST00000237596.6:c.1217T>C	ENSP00000237596.2:p.Val406Ala
ENST00000506367.1:n.664T>C
ENST00000508588.5:c.-301T>C	ENSP00000427131.1:n.-301T>C
NM_000297.3:c.1217T>C	NP_000288.1:p.Val406Ala
XM_011532028.1:c.1095-3287T>C	XP_011530330.1:n.1095-3287T>C
XM_011532029.1:c.497T>C	XP_011530331.1:p.Val166Ala
XM_011532030.1:c.377T>C	XP_011530332.1:p.Val126Ala
XR_244632.2:n.1312T>C
NR_156488.1:n.1304T>C
XM_011532028.2:c.1095-3287T>C	XP_011530330.1:n.1095-3287T>C
XM_011532030.2:c.377T>C	XP_011530332.1:p.Val126Ala
NM_000297.4:c.1217T>C MANE Select	NP_000288.1:p.Val406Ala
NR_156488.2:n.1316T>C