Canonical Allele Identifier: CA2671366579

Gene: PKD2

Linked Data

• gnomAD v4: 4-88047016-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88047016T>C , CM000666.2:g.88047016T>C	GRCh38
NC_000004.11:g.88968168T>C , CM000666.1:g.88968168T>C	GRCh37
NC_000004.10:g.89187192T>C	NCBI36
NG_008604.1:g.44349T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+146T>C MANE Select	ENSP00000237596.2:n.1548+146T>C
ENST00000237596.6:c.1548+146T>C	ENSP00000237596.2:n.1548+146T>C
ENST00000508588.5:c.-199+3559T>C	ENSP00000427131.1:n.-199+3559T>C
NM_000297.3:c.1548+146T>C	NP_000288.1:n.1548+146T>C
XM_011532028.1:c.1323+146T>C	XP_011530330.1:n.1323+146T>C
XM_011532029.1:c.828+146T>C	XP_011530331.1:n.828+146T>C
XM_011532030.1:c.708+146T>C	XP_011530332.1:n.708+146T>C
XR_244632.2:n.1643+146T>C
NR_156488.1:n.1635+146T>C
XM_011532028.2:c.1323+146T>C	XP_011530330.1:n.1323+146T>C
XM_011532030.2:c.708+146T>C	XP_011530332.1:n.708+146T>C
NM_000297.4:c.1548+146T>C MANE Select	NP_000288.1:n.1548+146T>C
NR_156488.2:n.1647+146T>C