Canonical Allele Identifier: CA100868089

Gene: PKD2

Linked Data

• ClinVar Variation Id: 1218842
• ClinVar RCV Id: RCV001594038
• dbSNP Id: rs76491349
• gnomAD v2: 4-88968264-T-C
• gnomAD v3: 4-88047112-T-C
• gnomAD v4: 4-88047112-T-C
• MyVariant Identifiers: chr4:g.88968264T>C (hg19) ; chr4:g.88047112T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88047112T>C , CM000666.2:g.88047112T>C	GRCh38
NC_000004.11:g.88968264T>C , CM000666.1:g.88968264T>C	GRCh37
NC_000004.10:g.89187288T>C	NCBI36
NG_008604.1:g.44445T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+242T>C MANE Select	ENSP00000237596.2:n.1548+242T>C
ENST00000237596.6:c.1548+242T>C	ENSP00000237596.2:n.1548+242T>C
ENST00000508588.5:c.-199+3655T>C	ENSP00000427131.1:n.-199+3655T>C
NM_000297.3:c.1548+242T>C	NP_000288.1:n.1548+242T>C
XM_011532028.1:c.1323+242T>C	XP_011530330.1:n.1323+242T>C
XM_011532029.1:c.828+242T>C	XP_011530331.1:n.828+242T>C
XM_011532030.1:c.708+242T>C	XP_011530332.1:n.708+242T>C
XR_244632.2:n.1643+242T>C
NR_156488.1:n.1635+242T>C
XM_011532028.2:c.1323+242T>C	XP_011530330.1:n.1323+242T>C
XM_011532030.2:c.708+242T>C	XP_011530332.1:n.708+242T>C
NM_000297.4:c.1548+242T>C MANE Select	NP_000288.1:n.1548+242T>C
NR_156488.2:n.1647+242T>C