Canonical Allele Identifier: CA3004281

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88074805C>T , CM000666.2:g.88074805C>T	GRCh38
NC_000004.11:g.88995957C>T , CM000666.1:g.88995957C>T	GRCh37
NC_000004.10:g.89214981C>T	NCBI36
NG_008604.1:g.72138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2523-7C>T MANE Select	ENSP00000237596.2:n.2523-7C>T
ENST00000237596.6:c.2523-7C>T	ENSP00000237596.2:n.2523-7C>T
ENST00000502363.1:c.777-7C>T	ENSP00000425289.1:n.777-7C>T
ENST00000508588.5:c.777-7C>T	ENSP00000427131.1:n.777-7C>T
ENST00000511337.5:n.775-7C>T
ENST00000512858.1:n.1001-7C>T
NM_000297.3:c.2523-7C>T	NP_000288.1:n.2523-7C>T
XM_011532028.1:c.2298-7C>T	XP_011530330.1:n.2298-7C>T
XM_011532029.1:c.1803-7C>T	XP_011530331.1:n.1803-7C>T
XM_011532030.1:c.1683-7C>T	XP_011530332.1:n.1683-7C>T
NR_156488.1:n.2489-7C>T
XM_011532028.2:c.2298-7C>T	XP_011530330.1:n.2298-7C>T
XM_011532030.2:c.1683-7C>T	XP_011530332.1:n.1683-7C>T
NM_000297.4:c.2523-7C>T MANE Select	NP_000288.1:n.2523-7C>T
NR_156488.2:n.2501-7C>T