Canonical Allele Identifier: CA357632875

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959542A>T (hg19) ; chr4:g.88038390A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038390A>T , CM000666.2:g.88038390A>T	GRCh38
NC_000004.11:g.88959542A>T , CM000666.1:g.88959542A>T	GRCh37
NC_000004.10:g.89178566A>T	NCBI36
NG_008604.1:g.35723A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.983A>T MANE Select	ENSP00000237596.2:p.Asn328Ile
ENST00000237596.6:c.983A>T	ENSP00000237596.2:p.Asn328Ile
ENST00000506367.1:n.430A>T
NM_000297.3:c.983A>T	NP_000288.1:p.Asn328Ile
XM_011532028.1:c.983A>T	XP_011530330.1:p.Asn328Ile
XM_011532029.1:c.263A>T	XP_011530331.1:p.Asn88Ile
XM_011532030.1:c.143A>T	XP_011530332.1:p.Asn48Ile
XR_244632.2:n.1078A>T
NR_156488.1:n.1070A>T
XM_011532028.2:c.983A>T	XP_011530330.1:p.Asn328Ile
XM_011532030.2:c.143A>T	XP_011530332.1:p.Asn48Ile
NM_000297.4:c.983A>T MANE Select	NP_000288.1:p.Asn328Ile
NR_156488.2:n.1082A>T