Canonical Allele Identifier: CA357632873

Gene: PKD2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.983A>G MANE Select	ENSP00000237596.2:p.Asn328Ser
ENST00000237596.6:c.983A>G	ENSP00000237596.2:p.Asn328Ser
ENST00000506367.1:n.430A>G
NM_000297.3:c.983A>G	NP_000288.1:p.Asn328Ser
XM_011532028.1:c.983A>G	XP_011530330.1:p.Asn328Ser
XM_011532029.1:c.263A>G	XP_011530331.1:p.Asn88Ser
XM_011532030.1:c.143A>G	XP_011530332.1:p.Asn48Ser
XR_244632.2:n.1078A>G
NR_156488.1:n.1070A>G
XM_011532028.2:c.983A>G	XP_011530330.1:p.Asn328Ser
XM_011532030.2:c.143A>G	XP_011530332.1:p.Asn48Ser
NM_000297.4:c.983A>G MANE Select	NP_000288.1:p.Asn328Ser
NR_156488.2:n.1082A>G