Canonical Allele Identifier: CA440296911

Gene: PKD2

Linked Data

• gnomAD v4: 4-88038391-T-C
• MyVariant Identifiers: chr4:g.88959543T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038391T>C , CM000666.2:g.88038391T>C	GRCh38
NC_000004.11:g.88959543T>C , CM000666.1:g.88959543T>C	GRCh37
NC_000004.10:g.89178567T>C	NCBI36
NG_008604.1:g.35724T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.984T>C MANE Select	ENSP00000237596.2:p.Asn328=
ENST00000237596.6:c.984T>C	ENSP00000237596.2:p.Asn328=
ENST00000506367.1:n.431T>C
NM_000297.3:c.984T>C	NP_000288.1:p.Asn328=
XM_011532028.1:c.984T>C	XP_011530330.1:p.Asn328=
XM_011532029.1:c.264T>C	XP_011530331.1:p.Asn88=
XM_011532030.1:c.144T>C	XP_011530332.1:p.Asn48=
XR_244632.2:n.1079T>C
NR_156488.1:n.1071T>C
XM_011532028.2:c.984T>C	XP_011530330.1:p.Asn328=
XM_011532030.2:c.144T>C	XP_011530332.1:p.Asn48=
NM_000297.4:c.984T>C MANE Select	NP_000288.1:p.Asn328=
NR_156488.2:n.1083T>C