Canonical Allele Identifier: CA3003789

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88036243A>C , CM000666.2:g.88036243A>C	GRCh38
NC_000004.11:g.88957395A>C , CM000666.1:g.88957395A>C	GRCh37
NC_000004.10:g.89176419A>C	NCBI36
NG_008604.1:g.33576A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.733A>C MANE Select	NP_000288.1:p.Asn245His
ENST00000237596.7:c.733A>C MANE Select	ENSP00000237596.2:p.Asn245His
NM_000297.3:c.733A>C	NP_000288.1:p.Asn245His
NR_156488.1:n.820A>C
NR_156488.2:n.832A>C
ENST00000237596.6:c.733A>C	ENSP00000237596.2:p.Asn245His
ENST00000506367.1:n.180A>C
ENST00000506727.1:n.319A>C
XM_011532028.1:c.733A>C	XP_011530330.1:p.Asn245His
XM_011532028.2:c.733A>C	XP_011530330.1:p.Asn245His
XM_011532029.1:c.13A>C	XP_011530331.1:p.Asn5His
XM_011532030.2:c.-235A>C	XP_011530332.1:n.-235A>C
XR_244632.2:n.828A>C