Canonical Allele Identifier: CA357618550

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967826T>A (hg19) ; chr4:g.88046674T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046674T>A , CM000666.2:g.88046674T>A	GRCh38
NC_000004.11:g.88967826T>A , CM000666.1:g.88967826T>A	GRCh37
NC_000004.10:g.89186850T>A	NCBI36
NG_008604.1:g.44007T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1352T>A MANE Select	ENSP00000237596.2:p.Val451Glu
ENST00000237596.6:c.1352T>A	ENSP00000237596.2:p.Val451Glu
ENST00000508588.5:c.-199+3217T>A	ENSP00000427131.1:n.-199+3217T>A
NM_000297.3:c.1352T>A	NP_000288.1:p.Val451Glu
XM_011532028.1:c.1127T>A	XP_011530330.1:p.Val376Glu
XM_011532029.1:c.632T>A	XP_011530331.1:p.Val211Glu
XM_011532030.1:c.512T>A	XP_011530332.1:p.Val171Glu
XR_244632.2:n.1447T>A
NR_156488.1:n.1439T>A
XM_011532028.2:c.1127T>A	XP_011530330.1:p.Val376Glu
XM_011532030.2:c.512T>A	XP_011530332.1:p.Val171Glu
NM_000297.4:c.1352T>A MANE Select	NP_000288.1:p.Val451Glu
NR_156488.2:n.1451T>A