Canonical Allele Identifier: CA440263308

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967941G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046789G>T , CM000666.2:g.88046789G>T	GRCh38
NC_000004.11:g.88967941G>T , CM000666.1:g.88967941G>T	GRCh37
NC_000004.10:g.89186965G>T	NCBI36
NG_008604.1:g.44122G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1467G>T MANE Select	ENSP00000237596.2:p.Val489=
ENST00000237596.6:c.1467G>T	ENSP00000237596.2:p.Val489=
ENST00000508588.5:c.-199+3332G>T	ENSP00000427131.1:n.-199+3332G>T
NM_000297.3:c.1467G>T	NP_000288.1:p.Val489=
XM_011532028.1:c.1242G>T	XP_011530330.1:p.Val414=
XM_011532029.1:c.747G>T	XP_011530331.1:p.Val249=
XM_011532030.1:c.627G>T	XP_011530332.1:p.Val209=
XR_244632.2:n.1562G>T
NR_156488.1:n.1554G>T
XM_011532028.2:c.1242G>T	XP_011530330.1:p.Val414=
XM_011532030.2:c.627G>T	XP_011530332.1:p.Val209=
NM_000297.4:c.1467G>T MANE Select	NP_000288.1:p.Val489=
NR_156488.2:n.1566G>T