Canonical Allele Identifier: CA357615428

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964404A>T (hg19) ; chr4:g.88043252A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043252A>T , CM000666.2:g.88043252A>T	GRCh38
NC_000004.11:g.88964404A>T , CM000666.1:g.88964404A>T	GRCh37
NC_000004.10:g.89183428A>T	NCBI36
NG_008604.1:g.40585A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1114A>T MANE Select	ENSP00000237596.2:p.Lys372Ter
ENST00000237596.6:c.1114A>T	ENSP00000237596.2:p.Lys372Ter
ENST00000506367.1:n.561A>T
NM_000297.3:c.1114A>T	NP_000288.1:p.Lys372Ter
XM_011532028.1:c.1095-3390A>T	XP_011530330.1:n.1095-3390A>T
XM_011532029.1:c.394A>T	XP_011530331.1:p.Lys132Ter
XM_011532030.1:c.274A>T	XP_011530332.1:p.Lys92Ter
XR_244632.2:n.1209A>T
NR_156488.1:n.1201A>T
XM_011532028.2:c.1095-3390A>T	XP_011530330.1:n.1095-3390A>T
XM_011532030.2:c.274A>T	XP_011530332.1:p.Lys92Ter
NM_000297.4:c.1114A>T MANE Select	NP_000288.1:p.Lys372Ter
NR_156488.2:n.1213A>T