Canonical Allele Identifier: CA3004169

Gene: PKD2

Linked Data

• dbSNP Id: rs746321788
• ExAC: 4:88986673 T / C
• gnomAD v2: 4-88986673-T-C
• gnomAD v3: 4-88065521-T-C
• gnomAD v4: 4-88065521-T-C
• MyVariant Identifiers: chr4:g.88986673T>C (hg19) ; chr4:g.88065521T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065521T>C , CM000666.2:g.88065521T>C	GRCh38
NC_000004.11:g.88986673T>C , CM000666.1:g.88986673T>C	GRCh37
NC_000004.10:g.89205697T>C	NCBI36
NG_008604.1:g.62854T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2240+26T>C MANE Select	ENSP00000237596.2:n.2240+26T>C
ENST00000237596.6:c.2240+26T>C	ENSP00000237596.2:n.2240+26T>C
ENST00000502363.1:c.494+26T>C	ENSP00000425289.1:n.494+26T>C
ENST00000508588.5:c.494+26T>C	ENSP00000427131.1:n.494+26T>C
ENST00000511337.5:n.492+26T>C
ENST00000512858.1:n.478T>C
NM_000297.3:c.2240+26T>C	NP_000288.1:n.2240+26T>C
XM_011532028.1:c.2015+26T>C	XP_011530330.1:n.2015+26T>C
XM_011532029.1:c.1520+26T>C	XP_011530331.1:n.1520+26T>C
XM_011532030.1:c.1400+26T>C	XP_011530332.1:n.1400+26T>C
NR_156488.1:n.2206+26T>C
XM_011532028.2:c.2015+26T>C	XP_011530330.1:n.2015+26T>C
XM_011532030.2:c.1400+26T>C	XP_011530332.1:n.1400+26T>C
NM_000297.4:c.2240+26T>C MANE Select	NP_000288.1:n.2240+26T>C
NR_156488.2:n.2218+26T>C