Canonical Allele Identifier: CA357615454

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964415T>A (hg19) ; chr4:g.88043263T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043263T>A , CM000666.2:g.88043263T>A	GRCh38
NC_000004.11:g.88964415T>A , CM000666.1:g.88964415T>A	GRCh37
NC_000004.10:g.89183439T>A	NCBI36
NG_008604.1:g.40596T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1125T>A MANE Select	ENSP00000237596.2:p.Asn375Lys
ENST00000237596.6:c.1125T>A	ENSP00000237596.2:p.Asn375Lys
ENST00000506367.1:n.572T>A
ENST00000508588.5:c.-393T>A	ENSP00000427131.1:n.-393T>A
NM_000297.3:c.1125T>A	NP_000288.1:p.Asn375Lys
XM_011532028.1:c.1095-3379T>A	XP_011530330.1:n.1095-3379T>A
XM_011532029.1:c.405T>A	XP_011530331.1:p.Asn135Lys
XM_011532030.1:c.285T>A	XP_011530332.1:p.Asn95Lys
XR_244632.2:n.1220T>A
NR_156488.1:n.1212T>A
XM_011532028.2:c.1095-3379T>A	XP_011530330.1:n.1095-3379T>A
XM_011532030.2:c.285T>A	XP_011530332.1:p.Asn95Lys
NM_000297.4:c.1125T>A MANE Select	NP_000288.1:p.Asn375Lys
NR_156488.2:n.1224T>A