Canonical Allele Identifier: CA100880478

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88061928A>G , CM000666.2:g.88061928A>G	GRCh38
NC_000004.11:g.88983080A>G , CM000666.1:g.88983080A>G	GRCh37
NC_000004.10:g.89202104A>G	NCBI36
NG_008604.1:g.59261A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.2042A>G MANE Select	NP_000288.1:p.Asn681Ser
ENST00000237596.7:c.2042A>G MANE Select	ENSP00000237596.2:p.Asn681Ser
NM_000297.3:c.2042A>G	NP_000288.1:p.Asn681Ser
NR_156488.1:n.2008A>G
NR_156488.2:n.2020A>G
ENST00000237596.6:c.2042A>G	ENSP00000237596.2:p.Asn681Ser
ENST00000502363.1:c.296A>G	ENSP00000425289.1:p.Asn99Ser
ENST00000508588.5:c.296A>G	ENSP00000427131.1:p.Asn99Ser
ENST00000511337.5:n.294A>G
ENST00000512858.1:n.254A>G
XM_011532028.1:c.1817A>G	XP_011530330.1:p.Asn606Ser
XM_011532028.2:c.1817A>G	XP_011530330.1:p.Asn606Ser
XM_011532029.1:c.1322A>G	XP_011530331.1:p.Asn441Ser
XM_011532030.1:c.1202A>G	XP_011530332.1:p.Asn401Ser
XM_011532030.2:c.1202A>G	XP_011530332.1:p.Asn401Ser
XR_244632.2:n.2016A>G