Canonical Allele Identifier: CA357619425

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967936G>T (hg19) ; chr4:g.88046784G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046784G>T , CM000666.2:g.88046784G>T	GRCh38
NC_000004.11:g.88967936G>T , CM000666.1:g.88967936G>T	GRCh37
NC_000004.10:g.89186960G>T	NCBI36
NG_008604.1:g.44117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1462G>T MANE Select	ENSP00000237596.2:p.Val488Leu
ENST00000237596.6:c.1462G>T	ENSP00000237596.2:p.Val488Leu
ENST00000508588.5:c.-199+3327G>T	ENSP00000427131.1:n.-199+3327G>T
NM_000297.3:c.1462G>T	NP_000288.1:p.Val488Leu
XM_011532028.1:c.1237G>T	XP_011530330.1:p.Val413Leu
XM_011532029.1:c.742G>T	XP_011530331.1:p.Val248Leu
XM_011532030.1:c.622G>T	XP_011530332.1:p.Val208Leu
XR_244632.2:n.1557G>T
NR_156488.1:n.1549G>T
XM_011532028.2:c.1237G>T	XP_011530330.1:p.Val413Leu
XM_011532030.2:c.622G>T	XP_011530332.1:p.Val208Leu
NM_000297.4:c.1462G>T MANE Select	NP_000288.1:p.Val488Leu
NR_156488.2:n.1561G>T