Canonical Allele Identifier: CA440263330

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967974A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046822A>T , CM000666.2:g.88046822A>T	GRCh38
NC_000004.11:g.88967974A>T , CM000666.1:g.88967974A>T	GRCh37
NC_000004.10:g.89186998A>T	NCBI36
NG_008604.1:g.44155A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1500A>T MANE Select	ENSP00000237596.2:p.Leu500=
ENST00000237596.6:c.1500A>T	ENSP00000237596.2:p.Leu500=
ENST00000508588.5:c.-199+3365A>T	ENSP00000427131.1:n.-199+3365A>T
NM_000297.3:c.1500A>T	NP_000288.1:p.Leu500=
XM_011532028.1:c.1275A>T	XP_011530330.1:p.Leu425=
XM_011532029.1:c.780A>T	XP_011530331.1:p.Leu260=
XM_011532030.1:c.660A>T	XP_011530332.1:p.Leu220=
XR_244632.2:n.1595A>T
NR_156488.1:n.1587A>T
XM_011532028.2:c.1275A>T	XP_011530330.1:p.Leu425=
XM_011532030.2:c.660A>T	XP_011530332.1:p.Leu220=
NM_000297.4:c.1500A>T MANE Select	NP_000288.1:p.Leu500=
NR_156488.2:n.1599A>T