Canonical Allele Identifier: CA440296768

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88959432G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038280G>T , CM000666.2:g.88038280G>T	GRCh38
NC_000004.11:g.88959432G>T , CM000666.1:g.88959432G>T	GRCh37
NC_000004.10:g.89178456G>T	NCBI36
NG_008604.1:g.35613G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.873G>T MANE Select	ENSP00000237596.2:p.Leu291=
ENST00000237596.6:c.873G>T	ENSP00000237596.2:p.Leu291=
ENST00000506367.1:n.320G>T
ENST00000506727.1:n.459G>T
NM_000297.3:c.873G>T	NP_000288.1:p.Leu291=
XM_011532028.1:c.873G>T	XP_011530330.1:p.Leu291=
XM_011532029.1:c.153G>T	XP_011530331.1:p.Leu51=
XM_011532030.1:c.33G>T	XP_011530332.1:p.Leu11=
XR_244632.2:n.968G>T
NR_156488.1:n.960G>T
XM_011532028.2:c.873G>T	XP_011530330.1:p.Leu291=
XM_011532030.2:c.33G>T	XP_011530332.1:p.Leu11=
NM_000297.4:c.873G>T MANE Select	NP_000288.1:p.Leu291=
NR_156488.2:n.972G>T