Canonical Allele Identifier: CA440263341

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88968004G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046852G>A , CM000666.2:g.88046852G>A	GRCh38
NC_000004.11:g.88968004G>A , CM000666.1:g.88968004G>A	GRCh37
NC_000004.10:g.89187028G>A	NCBI36
NG_008604.1:g.44185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1530G>A MANE Select	ENSP00000237596.2:p.Leu510=
ENST00000237596.6:c.1530G>A	ENSP00000237596.2:p.Leu510=
ENST00000508588.5:c.-199+3395G>A	ENSP00000427131.1:n.-199+3395G>A
NM_000297.3:c.1530G>A	NP_000288.1:p.Leu510=
XM_011532028.1:c.1305G>A	XP_011530330.1:p.Leu435=
XM_011532029.1:c.810G>A	XP_011530331.1:p.Leu270=
XM_011532030.1:c.690G>A	XP_011530332.1:p.Leu230=
XR_244632.2:n.1625G>A
NR_156488.1:n.1617G>A
XM_011532028.2:c.1305G>A	XP_011530330.1:p.Leu435=
XM_011532030.2:c.690G>A	XP_011530332.1:p.Leu230=
NM_000297.4:c.1530G>A MANE Select	NP_000288.1:p.Leu510=
NR_156488.2:n.1629G>A