Canonical Allele Identifier: CA357618790

Gene: PKD2

Linked Data

• gnomAD v4: 4-88046705-G-C
• MyVariant Identifiers: chr4:g.88967857G>C (hg19) ; chr4:g.88046705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046705G>C , CM000666.2:g.88046705G>C	GRCh38
NC_000004.11:g.88967857G>C , CM000666.1:g.88967857G>C	GRCh37
NC_000004.10:g.89186881G>C	NCBI36
NG_008604.1:g.44038G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1383G>C MANE Select	ENSP00000237596.2:p.Lys461Asn
ENST00000237596.6:c.1383G>C	ENSP00000237596.2:p.Lys461Asn
ENST00000508588.5:c.-199+3248G>C	ENSP00000427131.1:n.-199+3248G>C
NM_000297.3:c.1383G>C	NP_000288.1:p.Lys461Asn
XM_011532028.1:c.1158G>C	XP_011530330.1:p.Lys386Asn
XM_011532029.1:c.663G>C	XP_011530331.1:p.Lys221Asn
XM_011532030.1:c.543G>C	XP_011530332.1:p.Lys181Asn
XR_244632.2:n.1478G>C
NR_156488.1:n.1470G>C
XM_011532028.2:c.1158G>C	XP_011530330.1:p.Lys386Asn
XM_011532030.2:c.543G>C	XP_011530332.1:p.Lys181Asn
NM_000297.4:c.1383G>C MANE Select	NP_000288.1:p.Lys461Asn
NR_156488.2:n.1482G>C