Canonical Allele Identifier: CA552869900

Gene: PKD2

Linked Data

• dbSNP Id: rs1193296829
• gnomAD v2: 4-88986683-C-T
• gnomAD v4: 4-88065531-C-T
• MyVariant Identifiers: chr4:g.88986683C>T (hg19) ; chr4:g.88065531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065531C>T , CM000666.2:g.88065531C>T	GRCh38
NC_000004.11:g.88986683C>T , CM000666.1:g.88986683C>T	GRCh37
NC_000004.10:g.89205707C>T	NCBI36
NG_008604.1:g.62864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2240+36C>T MANE Select	ENSP00000237596.2:n.2240+36C>T
ENST00000237596.6:c.2240+36C>T	ENSP00000237596.2:n.2240+36C>T
ENST00000502363.1:c.494+36C>T	ENSP00000425289.1:n.494+36C>T
ENST00000508588.5:c.494+36C>T	ENSP00000427131.1:n.494+36C>T
ENST00000511337.5:n.492+36C>T
ENST00000512858.1:n.488C>T
NM_000297.3:c.2240+36C>T	NP_000288.1:n.2240+36C>T
XM_011532028.1:c.2015+36C>T	XP_011530330.1:n.2015+36C>T
XM_011532029.1:c.1520+36C>T	XP_011530331.1:n.1520+36C>T
XM_011532030.1:c.1400+36C>T	XP_011530332.1:n.1400+36C>T
NR_156488.1:n.2206+36C>T
XM_011532028.2:c.2015+36C>T	XP_011530330.1:n.2015+36C>T
XM_011532030.2:c.1400+36C>T	XP_011530332.1:n.1400+36C>T
NM_000297.4:c.2240+36C>T MANE Select	NP_000288.1:n.2240+36C>T
NR_156488.2:n.2218+36C>T