Canonical Allele Identifier: CA220614

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88057977T>G , CM000666.2:g.88057977T>G	GRCh38
NC_000004.11:g.88979129T>G , CM000666.1:g.88979129T>G	GRCh37
NC_000004.10:g.89198153T>G	NCBI36
NG_008604.1:g.55310T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000297.4:c.1899-6T>G MANE Select	NP_000288.1:n.1899-6T>G
ENST00000237596.7:c.1899-6T>G MANE Select	ENSP00000237596.2:n.1899-6T>G
NM_000297.3:c.1899-6T>G	NP_000288.1:n.1899-6T>G
NR_156488.1:n.1985+1710T>G
NR_156488.2:n.1997+1710T>G
ENST00000237596.6:c.1899-6T>G	ENSP00000237596.2:n.1899-6T>G
ENST00000502363.1:c.153-6T>G	ENSP00000425289.1:n.153-6T>G
ENST00000508588.5:c.153-6T>G	ENSP00000427131.1:n.153-6T>G
ENST00000511337.5:n.271+1710T>G
ENST00000512858.1:n.231+1710T>G
XM_011532028.1:c.1674-6T>G	XP_011530330.1:n.1674-6T>G
XM_011532028.2:c.1674-6T>G	XP_011530330.1:n.1674-6T>G
XM_011532029.1:c.1179-6T>G	XP_011530331.1:n.1179-6T>G
XM_011532030.1:c.1059-6T>G	XP_011530332.1:n.1059-6T>G
XM_011532030.2:c.1059-6T>G	XP_011530332.1:n.1059-6T>G
XR_244632.2:n.1993+1710T>G