Canonical Allele Identifier: CA2578140745

Gene: PKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046638G>T , CM000666.2:g.88046638G>T	GRCh38
NC_000004.11:g.88967790G>T , CM000666.1:g.88967790G>T	GRCh37
NC_000004.10:g.89186814G>T	NCBI36
NG_008604.1:g.43971G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1320-4G>T MANE Select	ENSP00000237596.2:n.1320-4G>T
ENST00000237596.6:c.1320-4G>T	ENSP00000237596.2:n.1320-4G>T
ENST00000508588.5:c.-199+3181G>T	ENSP00000427131.1:n.-199+3181G>T
NM_000297.3:c.1320-4G>T	NP_000288.1:n.1320-4G>T
XM_011532028.1:c.1095-4G>T	XP_011530330.1:n.1095-4G>T
XM_011532029.1:c.600-4G>T	XP_011530331.1:n.600-4G>T
XM_011532030.1:c.480-4G>T	XP_011530332.1:n.480-4G>T
XR_244632.2:n.1415-4G>T
NR_156488.1:n.1407-4G>T
XM_011532028.2:c.1095-4G>T	XP_011530330.1:n.1095-4G>T
XM_011532030.2:c.480-4G>T	XP_011530332.1:n.480-4G>T
NM_000297.4:c.1320-4G>T MANE Select	NP_000288.1:n.1320-4G>T
NR_156488.2:n.1419-4G>T