Canonical Allele Identifier: CA357615429

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964405A>T (hg19) ; chr4:g.88043253A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043253A>T , CM000666.2:g.88043253A>T	GRCh38
NC_000004.11:g.88964405A>T , CM000666.1:g.88964405A>T	GRCh37
NC_000004.10:g.89183429A>T	NCBI36
NG_008604.1:g.40586A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1115A>T MANE Select	ENSP00000237596.2:p.Lys372Ile
ENST00000237596.6:c.1115A>T	ENSP00000237596.2:p.Lys372Ile
ENST00000506367.1:n.562A>T
NM_000297.3:c.1115A>T	NP_000288.1:p.Lys372Ile
XM_011532028.1:c.1095-3389A>T	XP_011530330.1:n.1095-3389A>T
XM_011532029.1:c.395A>T	XP_011530331.1:p.Lys132Ile
XM_011532030.1:c.275A>T	XP_011530332.1:p.Lys92Ile
XR_244632.2:n.1210A>T
NR_156488.1:n.1202A>T
XM_011532028.2:c.1095-3389A>T	XP_011530330.1:n.1095-3389A>T
XM_011532030.2:c.275A>T	XP_011530332.1:p.Lys92Ile
NM_000297.4:c.1115A>T MANE Select	NP_000288.1:p.Lys372Ile
NR_156488.2:n.1214A>T