Canonical Allele Identifier: CA100883782

Gene: PKD2

Linked Data

• dbSNP Id: rs189689993
• gnomAD v2: 4-88986704-T-C
• gnomAD v3: 4-88065552-T-C
• gnomAD v4: 4-88065552-T-C
• MyVariant Identifiers: chr4:g.88986704T>C (hg19) ; chr4:g.88065552T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065552T>C , CM000666.2:g.88065552T>C	GRCh38
NC_000004.11:g.88986704T>C , CM000666.1:g.88986704T>C	GRCh37
NC_000004.10:g.89205728T>C	NCBI36
NG_008604.1:g.62885T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2240+57T>C MANE Select	ENSP00000237596.2:n.2240+57T>C
ENST00000237596.6:c.2240+57T>C	ENSP00000237596.2:n.2240+57T>C
ENST00000502363.1:c.494+57T>C	ENSP00000425289.1:n.494+57T>C
ENST00000508588.5:c.494+57T>C	ENSP00000427131.1:n.494+57T>C
ENST00000511337.5:n.492+57T>C
ENST00000512858.1:n.509T>C
NM_000297.3:c.2240+57T>C	NP_000288.1:n.2240+57T>C
XM_011532028.1:c.2015+57T>C	XP_011530330.1:n.2015+57T>C
XM_011532029.1:c.1520+57T>C	XP_011530331.1:n.1520+57T>C
XM_011532030.1:c.1400+57T>C	XP_011530332.1:n.1400+57T>C
NR_156488.1:n.2206+57T>C
XM_011532028.2:c.2015+57T>C	XP_011530330.1:n.2015+57T>C
XM_011532030.2:c.1400+57T>C	XP_011530332.1:n.1400+57T>C
NM_000297.4:c.2240+57T>C MANE Select	NP_000288.1:n.2240+57T>C
NR_156488.2:n.2218+57T>C