Canonical Allele Identifier: CA357619778

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967992C>A (hg19) ; chr4:g.88046840C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046840C>A , CM000666.2:g.88046840C>A	GRCh38
NC_000004.11:g.88967992C>A , CM000666.1:g.88967992C>A	GRCh37
NC_000004.10:g.89187016C>A	NCBI36
NG_008604.1:g.44173C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1518C>A MANE Select	ENSP00000237596.2:p.Phe506Leu
ENST00000237596.6:c.1518C>A	ENSP00000237596.2:p.Phe506Leu
ENST00000508588.5:c.-199+3383C>A	ENSP00000427131.1:n.-199+3383C>A
NM_000297.3:c.1518C>A	NP_000288.1:p.Phe506Leu
XM_011532028.1:c.1293C>A	XP_011530330.1:p.Phe431Leu
XM_011532029.1:c.798C>A	XP_011530331.1:p.Phe266Leu
XM_011532030.1:c.678C>A	XP_011530332.1:p.Phe226Leu
XR_244632.2:n.1613C>A
NR_156488.1:n.1605C>A
XM_011532028.2:c.1293C>A	XP_011530330.1:p.Phe431Leu
XM_011532030.2:c.678C>A	XP_011530332.1:p.Phe226Leu
NM_000297.4:c.1518C>A MANE Select	NP_000288.1:p.Phe506Leu
NR_156488.2:n.1617C>A