Canonical Allele Identifier: CA357615507

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964438T>A (hg19) ; chr4:g.88043286T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043286T>A , CM000666.2:g.88043286T>A	GRCh38
NC_000004.11:g.88964438T>A , CM000666.1:g.88964438T>A	GRCh37
NC_000004.10:g.89183462T>A	NCBI36
NG_008604.1:g.40619T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1148T>A MANE Select	ENSP00000237596.2:p.Ile383Asn
ENST00000237596.6:c.1148T>A	ENSP00000237596.2:p.Ile383Asn
ENST00000506367.1:n.595T>A
ENST00000508588.5:c.-370T>A	ENSP00000427131.1:n.-370T>A
NM_000297.3:c.1148T>A	NP_000288.1:p.Ile383Asn
XM_011532028.1:c.1095-3356T>A	XP_011530330.1:n.1095-3356T>A
XM_011532029.1:c.428T>A	XP_011530331.1:p.Ile143Asn
XM_011532030.1:c.308T>A	XP_011530332.1:p.Ile103Asn
XR_244632.2:n.1243T>A
NR_156488.1:n.1235T>A
XM_011532028.2:c.1095-3356T>A	XP_011530330.1:n.1095-3356T>A
XM_011532030.2:c.308T>A	XP_011530332.1:p.Ile103Asn
NM_000297.4:c.1148T>A MANE Select	NP_000288.1:p.Ile383Asn
NR_156488.2:n.1247T>A