Canonical Allele Identifier: CA357619105

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967891C>A (hg19) ; chr4:g.88046739C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046739C>A , CM000666.2:g.88046739C>A	GRCh38
NC_000004.11:g.88967891C>A , CM000666.1:g.88967891C>A	GRCh37
NC_000004.10:g.89186915C>A	NCBI36
NG_008604.1:g.44072C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1417C>A MANE Select	ENSP00000237596.2:p.Leu473Met
ENST00000237596.6:c.1417C>A	ENSP00000237596.2:p.Leu473Met
ENST00000508588.5:c.-199+3282C>A	ENSP00000427131.1:n.-199+3282C>A
NM_000297.3:c.1417C>A	NP_000288.1:p.Leu473Met
XM_011532028.1:c.1192C>A	XP_011530330.1:p.Leu398Met
XM_011532029.1:c.697C>A	XP_011530331.1:p.Leu233Met
XM_011532030.1:c.577C>A	XP_011530332.1:p.Leu193Met
XR_244632.2:n.1512C>A
NR_156488.1:n.1504C>A
XM_011532028.2:c.1192C>A	XP_011530330.1:p.Leu398Met
XM_011532030.2:c.577C>A	XP_011530332.1:p.Leu193Met
NM_000297.4:c.1417C>A MANE Select	NP_000288.1:p.Leu473Met
NR_156488.2:n.1516C>A