Canonical Allele Identifier: CA440263298

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967926C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046774C>A , CM000666.2:g.88046774C>A	GRCh38
NC_000004.11:g.88967926C>A , CM000666.1:g.88967926C>A	GRCh37
NC_000004.10:g.89186950C>A	NCBI36
NG_008604.1:g.44107C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1452C>A MANE Select	ENSP00000237596.2:p.Ile484=
ENST00000237596.6:c.1452C>A	ENSP00000237596.2:p.Ile484=
ENST00000508588.5:c.-199+3317C>A	ENSP00000427131.1:n.-199+3317C>A
NM_000297.3:c.1452C>A	NP_000288.1:p.Ile484=
XM_011532028.1:c.1227C>A	XP_011530330.1:p.Ile409=
XM_011532029.1:c.732C>A	XP_011530331.1:p.Ile244=
XM_011532030.1:c.612C>A	XP_011530332.1:p.Ile204=
XR_244632.2:n.1547C>A
NR_156488.1:n.1539C>A
XM_011532028.2:c.1227C>A	XP_011530330.1:p.Ile409=
XM_011532030.2:c.612C>A	XP_011530332.1:p.Ile204=
NM_000297.4:c.1452C>A MANE Select	NP_000288.1:p.Ile484=
NR_156488.2:n.1551C>A