Canonical Allele Identifier: CA357618574

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88967831C>A (hg19) ; chr4:g.88046679C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046679C>A , CM000666.2:g.88046679C>A	GRCh38
NC_000004.11:g.88967831C>A , CM000666.1:g.88967831C>A	GRCh37
NC_000004.10:g.89186855C>A	NCBI36
NG_008604.1:g.44012C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1357C>A MANE Select	ENSP00000237596.2:p.Pro453Thr
ENST00000237596.6:c.1357C>A	ENSP00000237596.2:p.Pro453Thr
ENST00000508588.5:c.-199+3222C>A	ENSP00000427131.1:n.-199+3222C>A
NM_000297.3:c.1357C>A	NP_000288.1:p.Pro453Thr
XM_011532028.1:c.1132C>A	XP_011530330.1:p.Pro378Thr
XM_011532029.1:c.637C>A	XP_011530331.1:p.Pro213Thr
XM_011532030.1:c.517C>A	XP_011530332.1:p.Pro173Thr
XR_244632.2:n.1452C>A
NR_156488.1:n.1444C>A
XM_011532028.2:c.1132C>A	XP_011530330.1:p.Pro378Thr
XM_011532030.2:c.517C>A	XP_011530332.1:p.Pro173Thr
NM_000297.4:c.1357C>A MANE Select	NP_000288.1:p.Pro453Thr
NR_156488.2:n.1456C>A