Canonical Allele Identifier: CA16609391

Gene: PKD2

Linked Data

• ClinVar Variation Id: 397507
• ClinVar RCV Id: RCV000449565 ; RCV000681703 ; RCV001292151 ; RCV001861649
• dbSNP Id: rs200001068
• gnomAD v2: 4-88959475-C-T
• gnomAD v3: 4-88038323-C-T
• gnomAD v4: 4-88038323-C-T
• MyVariant Identifiers: chr4:g.88959475C>T (hg19) ; chr4:g.88038323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88038323C>T , CM000666.2:g.88038323C>T	GRCh38
NC_000004.11:g.88959475C>T , CM000666.1:g.88959475C>T	GRCh37
NC_000004.10:g.89178499C>T	NCBI36
NG_008604.1:g.35656C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.916C>T MANE Select	ENSP00000237596.2:p.Arg306Ter
ENST00000237596.6:c.916C>T	ENSP00000237596.2:p.Arg306Ter
ENST00000506367.1:n.363C>T
ENST00000506727.1:n.502C>T
NM_000297.3:c.916C>T	NP_000288.1:p.Arg306Ter
XM_011532028.1:c.916C>T	XP_011530330.1:p.Arg306Ter
XM_011532029.1:c.196C>T	XP_011530331.1:p.Arg66Ter
XM_011532030.1:c.76C>T	XP_011530332.1:p.Arg26Ter
XR_244632.2:n.1011C>T
NR_156488.1:n.1003C>T
XM_011532028.2:c.916C>T	XP_011530330.1:p.Arg306Ter
XM_011532030.2:c.76C>T	XP_011530332.1:p.Arg26Ter
NM_000297.4:c.916C>T MANE Select	NP_000288.1:p.Arg306Ter
NR_156488.2:n.1015C>T