Canonical Allele Identifier: CA440263353

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88968019T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046867T>C , CM000666.2:g.88046867T>C	GRCh38
NC_000004.11:g.88968019T>C , CM000666.1:g.88968019T>C	GRCh37
NC_000004.10:g.89187043T>C	NCBI36
NG_008604.1:g.44200T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1545T>C MANE Select	ENSP00000237596.2:p.Val515=
ENST00000237596.6:c.1545T>C	ENSP00000237596.2:p.Val515=
ENST00000508588.5:c.-199+3410T>C	ENSP00000427131.1:n.-199+3410T>C
NM_000297.3:c.1545T>C	NP_000288.1:p.Val515=
XM_011532028.1:c.1320T>C	XP_011530330.1:p.Val440=
XM_011532029.1:c.825T>C	XP_011530331.1:p.Val275=
XM_011532030.1:c.705T>C	XP_011530332.1:p.Val235=
XR_244632.2:n.1640T>C
NR_156488.1:n.1632T>C
XM_011532028.2:c.1320T>C	XP_011530330.1:p.Val440=
XM_011532030.2:c.705T>C	XP_011530332.1:p.Val235=
NM_000297.4:c.1545T>C MANE Select	NP_000288.1:p.Val515=
NR_156488.2:n.1644T>C