Canonical Allele Identifier: CA440261941

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964469G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043317G>T , CM000666.2:g.88043317G>T	GRCh38
NC_000004.11:g.88964469G>T , CM000666.1:g.88964469G>T	GRCh37
NC_000004.10:g.89183493G>T	NCBI36
NG_008604.1:g.40650G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1179G>T MANE Select	ENSP00000237596.2:p.Leu393=
ENST00000237596.6:c.1179G>T	ENSP00000237596.2:p.Leu393=
ENST00000506367.1:n.626G>T
ENST00000508588.5:c.-339G>T	ENSP00000427131.1:n.-339G>T
NM_000297.3:c.1179G>T	NP_000288.1:p.Leu393=
XM_011532028.1:c.1095-3325G>T	XP_011530330.1:n.1095-3325G>T
XM_011532029.1:c.459G>T	XP_011530331.1:p.Leu153=
XM_011532030.1:c.339G>T	XP_011530332.1:p.Leu113=
XR_244632.2:n.1274G>T
NR_156488.1:n.1266G>T
XM_011532028.2:c.1095-3325G>T	XP_011530330.1:n.1095-3325G>T
XM_011532030.2:c.339G>T	XP_011530332.1:p.Leu113=
NM_000297.4:c.1179G>T MANE Select	NP_000288.1:p.Leu393=
NR_156488.2:n.1278G>T