Canonical Allele Identifier: CA357619441

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967939G>T (hg19) ; chr4:g.88046787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046787G>T , CM000666.2:g.88046787G>T	GRCh38
NC_000004.11:g.88967939G>T , CM000666.1:g.88967939G>T	GRCh37
NC_000004.10:g.89186963G>T	NCBI36
NG_008604.1:g.44120G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1465G>T MANE Select	ENSP00000237596.2:p.Val489Leu
ENST00000237596.6:c.1465G>T	ENSP00000237596.2:p.Val489Leu
ENST00000508588.5:c.-199+3330G>T	ENSP00000427131.1:n.-199+3330G>T
NM_000297.3:c.1465G>T	NP_000288.1:p.Val489Leu
XM_011532028.1:c.1240G>T	XP_011530330.1:p.Val414Leu
XM_011532029.1:c.745G>T	XP_011530331.1:p.Val249Leu
XM_011532030.1:c.625G>T	XP_011530332.1:p.Val209Leu
XR_244632.2:n.1560G>T
NR_156488.1:n.1552G>T
XM_011532028.2:c.1240G>T	XP_011530330.1:p.Val414Leu
XM_011532030.2:c.625G>T	XP_011530332.1:p.Val209Leu
NM_000297.4:c.1465G>T MANE Select	NP_000288.1:p.Val489Leu
NR_156488.2:n.1564G>T