Canonical Allele Identifier: CA440296667

Gene: PKD2

Linked Data

• dbSNP Id: rs1578111306
• MyVariant Identifiers: chr4:g.88929098C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007946C>T , CM000666.2:g.88007946C>T	GRCh38
NC_000004.11:g.88929098C>T , CM000666.1:g.88929098C>T	GRCh37
NC_000004.10:g.89148122C>T	NCBI36
NG_008604.1:g.5279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.213C>T MANE Select	ENSP00000237596.2:p.Ala71=
ENST00000237596.6:c.213C>T	ENSP00000237596.2:p.Ala71=
NM_000297.3:c.213C>T	NP_000288.1:p.Ala71=
XM_011532028.1:c.213C>T	XP_011530330.1:p.Ala71=
XR_244632.2:n.308C>T
NR_156488.1:n.300C>T
XM_011532028.2:c.213C>T	XP_011530330.1:p.Ala71=
NM_000297.4:c.213C>T MANE Select	NP_000288.1:p.Ala71=
NR_156488.2:n.312C>T