Canonical Allele Identifier: CA440268361

Gene: PKD2

Linked Data

• dbSNP Id: rs1228056687
• gnomAD v2: 4-88929476-G-T
• gnomAD v4: 4-88008324-G-T
• MyVariant Identifiers: chr4:g.88929476G>T (hg19) ; chr4:g.88008324G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008324G>T , CM000666.2:g.88008324G>T	GRCh38
NC_000004.11:g.88929476G>T , CM000666.1:g.88929476G>T	GRCh37
NC_000004.10:g.89148500G>T	NCBI36
NG_008604.1:g.5657G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.591G>T MANE Select	ENSP00000237596.2:p.Leu197=
ENST00000237596.6:c.591G>T	ENSP00000237596.2:p.Leu197=
ENST00000506727.1:n.93G>T
NM_000297.3:c.591G>T	NP_000288.1:p.Leu197=
XM_011532028.1:c.591G>T	XP_011530330.1:p.Leu197=
XR_244632.2:n.686G>T
NR_156488.1:n.678G>T
XM_011532028.2:c.591G>T	XP_011530330.1:p.Leu197=
NM_000297.4:c.591G>T MANE Select	NP_000288.1:p.Leu197=
NR_156488.2:n.690G>T