Canonical Allele Identifier: CA2671365776

Gene: PKD2

Linked Data

• gnomAD v4: 4-88038198-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038198C>T , CM000666.2:g.88038198C>T	GRCh38
NC_000004.11:g.88959350C>T , CM000666.1:g.88959350C>T	GRCh37
NC_000004.10:g.89178374C>T	NCBI36
NG_008604.1:g.35531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.844-53C>T MANE Select	ENSP00000237596.2:n.844-53C>T
ENST00000237596.6:c.844-53C>T	ENSP00000237596.2:n.844-53C>T
ENST00000506367.1:n.291-53C>T
ENST00000506727.1:n.430-53C>T
NM_000297.3:c.844-53C>T	NP_000288.1:n.844-53C>T
XM_011532028.1:c.844-53C>T	XP_011530330.1:n.844-53C>T
XM_011532029.1:c.124-53C>T	XP_011530331.1:n.124-53C>T
XM_011532030.1:c.4-53C>T	XP_011530332.1:n.4-53C>T
XR_244632.2:n.939-53C>T
NR_156488.1:n.931-53C>T
XM_011532028.2:c.844-53C>T	XP_011530330.1:n.844-53C>T
XM_011532030.2:c.4-53C>T	XP_011530332.1:n.4-53C>T
NM_000297.4:c.844-53C>T MANE Select	NP_000288.1:n.844-53C>T
NR_156488.2:n.943-53C>T