Canonical Allele Identifier: CA2671366131

Gene: PKD2

Linked Data

• gnomAD v4: 4-88046595-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046595C>T , CM000666.2:g.88046595C>T	GRCh38
NC_000004.11:g.88967747C>T , CM000666.1:g.88967747C>T	GRCh37
NC_000004.10:g.89186771C>T	NCBI36
NG_008604.1:g.43928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1320-47C>T MANE Select	ENSP00000237596.2:n.1320-47C>T
ENST00000237596.6:c.1320-47C>T	ENSP00000237596.2:n.1320-47C>T
ENST00000508588.5:c.-199+3138C>T	ENSP00000427131.1:n.-199+3138C>T
NM_000297.3:c.1320-47C>T	NP_000288.1:n.1320-47C>T
XM_011532028.1:c.1095-47C>T	XP_011530330.1:n.1095-47C>T
XM_011532029.1:c.600-47C>T	XP_011530331.1:n.600-47C>T
XM_011532030.1:c.480-47C>T	XP_011530332.1:n.480-47C>T
XR_244632.2:n.1415-47C>T
NR_156488.1:n.1407-47C>T
XM_011532028.2:c.1095-47C>T	XP_011530330.1:n.1095-47C>T
XM_011532030.2:c.480-47C>T	XP_011530332.1:n.480-47C>T
NM_000297.4:c.1320-47C>T MANE Select	NP_000288.1:n.1320-47C>T
NR_156488.2:n.1419-47C>T