Canonical Allele Identifier: CA440296874

Gene: PKD2

Linked Data

• gnomAD v4: 4-88008144-G-T
• MyVariant Identifiers: chr4:g.88929296G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008144G>T , CM000666.2:g.88008144G>T	GRCh38
NC_000004.11:g.88929296G>T , CM000666.1:g.88929296G>T	GRCh37
NC_000004.10:g.89148320G>T	NCBI36
NG_008604.1:g.5477G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.411G>T MANE Select	ENSP00000237596.2:p.Arg137=
ENST00000237596.6:c.411G>T	ENSP00000237596.2:p.Arg137=
NM_000297.3:c.411G>T	NP_000288.1:p.Arg137=
XM_011532028.1:c.411G>T	XP_011530330.1:p.Arg137=
XR_244632.2:n.506G>T
NR_156488.1:n.498G>T
XM_011532028.2:c.411G>T	XP_011530330.1:p.Arg137=
NM_000297.4:c.411G>T MANE Select	NP_000288.1:p.Arg137=
NR_156488.2:n.510G>T