Canonical Allele Identifier: CA440268293

Gene: PKD2

Linked Data

• gnomAD v4: 4-88007751-C-T
• MyVariant Identifiers: chr4:g.88928903C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007751C>T , CM000666.2:g.88007751C>T	GRCh38
NC_000004.11:g.88928903C>T , CM000666.1:g.88928903C>T	GRCh37
NC_000004.10:g.89147927C>T	NCBI36
NG_008604.1:g.5084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.18C>T MANE Select	ENSP00000237596.2:p.Arg6=
ENST00000237596.6:c.18C>T	ENSP00000237596.2:p.Arg6=
NM_000297.3:c.18C>T	NP_000288.1:p.Arg6=
XM_011532028.1:c.18C>T	XP_011530330.1:p.Arg6=
XR_244632.2:n.113C>T
NR_156488.1:n.105C>T
XM_011532028.2:c.18C>T	XP_011530330.1:p.Arg6=
NM_000297.4:c.18C>T MANE Select	NP_000288.1:p.Arg6=
NR_156488.2:n.117C>T