Canonical Allele Identifier: CA357619904

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88968023G>T (hg19) ; chr4:g.88046871G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046871G>T , CM000666.2:g.88046871G>T	GRCh38
NC_000004.11:g.88968023G>T , CM000666.1:g.88968023G>T	GRCh37
NC_000004.10:g.89187047G>T	NCBI36
NG_008604.1:g.44204G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1548+1G>T MANE Select	ENSP00000237596.2:n.1548+1G>T
ENST00000237596.6:c.1548+1G>T	ENSP00000237596.2:n.1548+1G>T
ENST00000508588.5:c.-199+3414G>T	ENSP00000427131.1:n.-199+3414G>T
NM_000297.3:c.1548+1G>T	NP_000288.1:n.1548+1G>T
XM_011532028.1:c.1323+1G>T	XP_011530330.1:n.1323+1G>T
XM_011532029.1:c.828+1G>T	XP_011530331.1:n.828+1G>T
XM_011532030.1:c.708+1G>T	XP_011530332.1:n.708+1G>T
XR_244632.2:n.1643+1G>T
NR_156488.1:n.1635+1G>T
XM_011532028.2:c.1323+1G>T	XP_011530330.1:n.1323+1G>T
XM_011532030.2:c.708+1G>T	XP_011530332.1:n.708+1G>T
NM_000297.4:c.1548+1G>T MANE Select	NP_000288.1:n.1548+1G>T
NR_156488.2:n.1647+1G>T