Canonical Allele Identifier: CA357633292

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959645T>A (hg19) ; chr4:g.88038493T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038493T>A , CM000666.2:g.88038493T>A	GRCh38
NC_000004.11:g.88959645T>A , CM000666.1:g.88959645T>A	GRCh37
NC_000004.10:g.89178669T>A	NCBI36
NG_008604.1:g.35826T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1086T>A MANE Select	ENSP00000237596.2:p.Asn362Lys
ENST00000237596.6:c.1086T>A	ENSP00000237596.2:p.Asn362Lys
ENST00000506367.1:n.533T>A
NM_000297.3:c.1086T>A	NP_000288.1:p.Asn362Lys
XM_011532028.1:c.1086T>A	XP_011530330.1:p.Asn362Lys
XM_011532029.1:c.366T>A	XP_011530331.1:p.Asn122Lys
XM_011532030.1:c.246T>A	XP_011530332.1:p.Asn82Lys
XR_244632.2:n.1181T>A
NR_156488.1:n.1173T>A
XM_011532028.2:c.1086T>A	XP_011530330.1:p.Asn362Lys
XM_011532030.2:c.246T>A	XP_011530332.1:p.Asn82Lys
NM_000297.4:c.1086T>A MANE Select	NP_000288.1:p.Asn362Lys
NR_156488.2:n.1185T>A