Canonical Allele Identifier: CA440296747

Gene: PKD2

Linked Data

• gnomAD v4: 4-88038266-T-C
• MyVariant Identifiers: chr4:g.88959418T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038266T>C , CM000666.2:g.88038266T>C	GRCh38
NC_000004.11:g.88959418T>C , CM000666.1:g.88959418T>C	GRCh37
NC_000004.10:g.89178442T>C	NCBI36
NG_008604.1:g.35599T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.859T>C MANE Select	ENSP00000237596.2:p.Leu287=
ENST00000237596.6:c.859T>C	ENSP00000237596.2:p.Leu287=
ENST00000506367.1:n.306T>C
ENST00000506727.1:n.445T>C
NM_000297.3:c.859T>C	NP_000288.1:p.Leu287=
XM_011532028.1:c.859T>C	XP_011530330.1:p.Leu287=
XM_011532029.1:c.139T>C	XP_011530331.1:p.Leu47=
XM_011532030.1:c.19T>C	XP_011530332.1:p.Leu7=
XR_244632.2:n.954T>C
NR_156488.1:n.946T>C
XM_011532028.2:c.859T>C	XP_011530330.1:p.Leu287=
XM_011532030.2:c.19T>C	XP_011530332.1:p.Leu7=
NM_000297.4:c.859T>C MANE Select	NP_000288.1:p.Leu287=
NR_156488.2:n.958T>C