Canonical Allele Identifier: CA357619417

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967935T>A (hg19) ; chr4:g.88046783T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046783T>A , CM000666.2:g.88046783T>A	GRCh38
NC_000004.11:g.88967935T>A , CM000666.1:g.88967935T>A	GRCh37
NC_000004.10:g.89186959T>A	NCBI36
NG_008604.1:g.44116T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1461T>A MANE Select	ENSP00000237596.2:p.Tyr487Ter
ENST00000237596.6:c.1461T>A	ENSP00000237596.2:p.Tyr487Ter
ENST00000508588.5:c.-199+3326T>A	ENSP00000427131.1:n.-199+3326T>A
NM_000297.3:c.1461T>A	NP_000288.1:p.Tyr487Ter
XM_011532028.1:c.1236T>A	XP_011530330.1:p.Tyr412Ter
XM_011532029.1:c.741T>A	XP_011530331.1:p.Tyr247Ter
XM_011532030.1:c.621T>A	XP_011530332.1:p.Tyr207Ter
XR_244632.2:n.1556T>A
NR_156488.1:n.1548T>A
XM_011532028.2:c.1236T>A	XP_011530330.1:p.Tyr412Ter
XM_011532030.2:c.621T>A	XP_011530332.1:p.Tyr207Ter
NM_000297.4:c.1461T>A MANE Select	NP_000288.1:p.Tyr487Ter
NR_156488.2:n.1560T>A