Canonical Allele Identifier: CA3004252

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88067988G>A , CM000666.2:g.88067988G>A	GRCh38
NC_000004.11:g.88989140G>A , CM000666.1:g.88989140G>A	GRCh37
NC_000004.10:g.89208164G>A	NCBI36
NG_008604.1:g.65321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2449G>A MANE Select	ENSP00000237596.2:p.Asp817Asn
ENST00000237596.6:c.2449G>A	ENSP00000237596.2:p.Asp817Asn
ENST00000502363.1:c.703G>A	ENSP00000425289.1:p.Asp235Asn
ENST00000508588.5:c.703G>A	ENSP00000427131.1:p.Asp235Asn
ENST00000511337.5:n.701G>A
ENST00000512858.1:n.927G>A
NM_000297.3:c.2449G>A	NP_000288.1:p.Asp817Asn
XM_011532028.1:c.2224G>A	XP_011530330.1:p.Asp742Asn
XM_011532029.1:c.1729G>A	XP_011530331.1:p.Asp577Asn
XM_011532030.1:c.1609G>A	XP_011530332.1:p.Asp537Asn
NR_156488.1:n.2415G>A
XM_011532028.2:c.2224G>A	XP_011530330.1:p.Asp742Asn
XM_011532030.2:c.1609G>A	XP_011530332.1:p.Asp537Asn
NM_000297.4:c.2449G>A MANE Select	NP_000288.1:p.Asp817Asn
NR_156488.2:n.2427G>A