Canonical Allele Identifier: CA357619446

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967940T>C (hg19) ; chr4:g.88046788T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046788T>C , CM000666.2:g.88046788T>C	GRCh38
NC_000004.11:g.88967940T>C , CM000666.1:g.88967940T>C	GRCh37
NC_000004.10:g.89186964T>C	NCBI36
NG_008604.1:g.44121T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1466T>C MANE Select	ENSP00000237596.2:p.Val489Ala
ENST00000237596.6:c.1466T>C	ENSP00000237596.2:p.Val489Ala
ENST00000508588.5:c.-199+3331T>C	ENSP00000427131.1:n.-199+3331T>C
NM_000297.3:c.1466T>C	NP_000288.1:p.Val489Ala
XM_011532028.1:c.1241T>C	XP_011530330.1:p.Val414Ala
XM_011532029.1:c.746T>C	XP_011530331.1:p.Val249Ala
XM_011532030.1:c.626T>C	XP_011530332.1:p.Val209Ala
XR_244632.2:n.1561T>C
NR_156488.1:n.1553T>C
XM_011532028.2:c.1241T>C	XP_011530330.1:p.Val414Ala
XM_011532030.2:c.626T>C	XP_011530332.1:p.Val209Ala
NM_000297.4:c.1466T>C MANE Select	NP_000288.1:p.Val489Ala
NR_156488.2:n.1565T>C