Canonical Allele Identifier: CA440296767

Gene: PKD2

Linked Data

• dbSNP Id: rs368654947
• gnomAD v3: 4-88038280-G-A
• gnomAD v4: 4-88038280-G-A
• MyVariant Identifiers: chr4:g.88959432G>A (hg19) ; chr4:g.88038280G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038280G>A , CM000666.2:g.88038280G>A	GRCh38
NC_000004.11:g.88959432G>A , CM000666.1:g.88959432G>A	GRCh37
NC_000004.10:g.89178456G>A	NCBI36
NG_008604.1:g.35613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.873G>A MANE Select	ENSP00000237596.2:p.Leu291=
ENST00000237596.6:c.873G>A	ENSP00000237596.2:p.Leu291=
ENST00000506367.1:n.320G>A
ENST00000506727.1:n.459G>A
NM_000297.3:c.873G>A	NP_000288.1:p.Leu291=
XM_011532028.1:c.873G>A	XP_011530330.1:p.Leu291=
XM_011532029.1:c.153G>A	XP_011530331.1:p.Leu51=
XM_011532030.1:c.33G>A	XP_011530332.1:p.Leu11=
XR_244632.2:n.968G>A
NR_156488.1:n.960G>A
XM_011532028.2:c.873G>A	XP_011530330.1:p.Leu291=
XM_011532030.2:c.33G>A	XP_011530332.1:p.Leu11=
NM_000297.4:c.873G>A MANE Select	NP_000288.1:p.Leu291=
NR_156488.2:n.972G>A