Canonical Allele Identifier: CA357624751

Gene: PKD2

Linked Data

• gnomAD v4: 4-88065491-A-C
• MyVariant Identifiers: chr4:g.88986643A>C (hg19) ; chr4:g.88065491A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065491A>C , CM000666.2:g.88065491A>C	GRCh38
NC_000004.11:g.88986643A>C , CM000666.1:g.88986643A>C	GRCh37
NC_000004.10:g.89205667A>C	NCBI36
NG_008604.1:g.62824A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2236A>C MANE Select	ENSP00000237596.2:p.Lys746Gln
ENST00000237596.6:c.2236A>C	ENSP00000237596.2:p.Lys746Gln
ENST00000502363.1:c.490A>C	ENSP00000425289.1:p.Lys164Gln
ENST00000508588.5:c.490A>C	ENSP00000427131.1:p.Lys164Gln
ENST00000511337.5:n.488A>C
ENST00000512858.1:n.448A>C
NM_000297.3:c.2236A>C	NP_000288.1:p.Lys746Gln
XM_011532028.1:c.2011A>C	XP_011530330.1:p.Lys671Gln
XM_011532029.1:c.1516A>C	XP_011530331.1:p.Lys506Gln
XM_011532030.1:c.1396A>C	XP_011530332.1:p.Lys466Gln
NR_156488.1:n.2202A>C
XM_011532028.2:c.2011A>C	XP_011530330.1:p.Lys671Gln
XM_011532030.2:c.1396A>C	XP_011530332.1:p.Lys466Gln
NM_000297.4:c.2236A>C MANE Select	NP_000288.1:p.Lys746Gln
NR_156488.2:n.2214A>C