Canonical Allele Identifier: CA440263316

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967950A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046798A>T , CM000666.2:g.88046798A>T	GRCh38
NC_000004.11:g.88967950A>T , CM000666.1:g.88967950A>T	GRCh37
NC_000004.10:g.89186974A>T	NCBI36
NG_008604.1:g.44131A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1476A>T MANE Select	ENSP00000237596.2:p.Ile492=
ENST00000237596.6:c.1476A>T	ENSP00000237596.2:p.Ile492=
ENST00000508588.5:c.-199+3341A>T	ENSP00000427131.1:n.-199+3341A>T
NM_000297.3:c.1476A>T	NP_000288.1:p.Ile492=
XM_011532028.1:c.1251A>T	XP_011530330.1:p.Ile417=
XM_011532029.1:c.756A>T	XP_011530331.1:p.Ile252=
XM_011532030.1:c.636A>T	XP_011530332.1:p.Ile212=
XR_244632.2:n.1571A>T
NR_156488.1:n.1563A>T
XM_011532028.2:c.1251A>T	XP_011530330.1:p.Ile417=
XM_011532030.2:c.636A>T	XP_011530332.1:p.Ile212=
NM_000297.4:c.1476A>T MANE Select	NP_000288.1:p.Ile492=
NR_156488.2:n.1575A>T