Canonical Allele Identifier: CA440268422

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88986639T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88065487T>C , CM000666.2:g.88065487T>C	GRCh38
NC_000004.11:g.88986639T>C , CM000666.1:g.88986639T>C	GRCh37
NC_000004.10:g.89205663T>C	NCBI36
NG_008604.1:g.62820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2232T>C MANE Select	ENSP00000237596.2:p.Asp744=
ENST00000237596.6:c.2232T>C	ENSP00000237596.2:p.Asp744=
ENST00000502363.1:c.486T>C	ENSP00000425289.1:p.Asp162=
ENST00000508588.5:c.486T>C	ENSP00000427131.1:p.Asp162=
ENST00000511337.5:n.484T>C
ENST00000512858.1:n.444T>C
NM_000297.3:c.2232T>C	NP_000288.1:p.Asp744=
XM_011532028.1:c.2007T>C	XP_011530330.1:p.Asp669=
XM_011532029.1:c.1512T>C	XP_011530331.1:p.Asp504=
XM_011532030.1:c.1392T>C	XP_011530332.1:p.Asp464=
NR_156488.1:n.2198T>C
XM_011532028.2:c.2007T>C	XP_011530330.1:p.Asp669=
XM_011532030.2:c.1392T>C	XP_011530332.1:p.Asp464=
NM_000297.4:c.2232T>C MANE Select	NP_000288.1:p.Asp744=
NR_156488.2:n.2210T>C