Canonical Allele Identifier: CA357632424

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959439A>T (hg19) ; chr4:g.88038287A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038287A>T , CM000666.2:g.88038287A>T	GRCh38
NC_000004.11:g.88959439A>T , CM000666.1:g.88959439A>T	GRCh37
NC_000004.10:g.89178463A>T	NCBI36
NG_008604.1:g.35620A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.880A>T MANE Select	ENSP00000237596.2:p.Lys294Ter
ENST00000237596.6:c.880A>T	ENSP00000237596.2:p.Lys294Ter
ENST00000506367.1:n.327A>T
ENST00000506727.1:n.466A>T
NM_000297.3:c.880A>T	NP_000288.1:p.Lys294Ter
XM_011532028.1:c.880A>T	XP_011530330.1:p.Lys294Ter
XM_011532029.1:c.160A>T	XP_011530331.1:p.Lys54Ter
XM_011532030.1:c.40A>T	XP_011530332.1:p.Lys14Ter
XR_244632.2:n.975A>T
NR_156488.1:n.967A>T
XM_011532028.2:c.880A>T	XP_011530330.1:p.Lys294Ter
XM_011532030.2:c.40A>T	XP_011530332.1:p.Lys14Ter
NM_000297.4:c.880A>T MANE Select	NP_000288.1:p.Lys294Ter
NR_156488.2:n.979A>T