Canonical Allele Identifier: CA440263320

Gene: PKD2

Linked Data

• gnomAD v4: 4-88046807-T-C
• MyVariant Identifiers: chr4:g.88967959T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046807T>C , CM000666.2:g.88046807T>C	GRCh38
NC_000004.11:g.88967959T>C , CM000666.1:g.88967959T>C	GRCh37
NC_000004.10:g.89186983T>C	NCBI36
NG_008604.1:g.44140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1485T>C MANE Select	ENSP00000237596.2:p.Ile495=
ENST00000237596.6:c.1485T>C	ENSP00000237596.2:p.Ile495=
ENST00000508588.5:c.-199+3350T>C	ENSP00000427131.1:n.-199+3350T>C
NM_000297.3:c.1485T>C	NP_000288.1:p.Ile495=
XM_011532028.1:c.1260T>C	XP_011530330.1:p.Ile420=
XM_011532029.1:c.765T>C	XP_011530331.1:p.Ile255=
XM_011532030.1:c.645T>C	XP_011530332.1:p.Ile215=
XR_244632.2:n.1580T>C
NR_156488.1:n.1572T>C
XM_011532028.2:c.1260T>C	XP_011530330.1:p.Ile420=
XM_011532030.2:c.645T>C	XP_011530332.1:p.Ile215=
NM_000297.4:c.1485T>C MANE Select	NP_000288.1:p.Ile495=
NR_156488.2:n.1584T>C