Canonical Allele Identifier: CA440261766

Gene: PKD2

Linked Data

• gnomAD v4: 4-88043272-C-T
• MyVariant Identifiers: chr4:g.88964424C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043272C>T , CM000666.2:g.88043272C>T	GRCh38
NC_000004.11:g.88964424C>T , CM000666.1:g.88964424C>T	GRCh37
NC_000004.10:g.89183448C>T	NCBI36
NG_008604.1:g.40605C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1134C>T MANE Select	ENSP00000237596.2:p.Ser378=
ENST00000237596.6:c.1134C>T	ENSP00000237596.2:p.Ser378=
ENST00000506367.1:n.581C>T
ENST00000508588.5:c.-384C>T	ENSP00000427131.1:n.-384C>T
NM_000297.3:c.1134C>T	NP_000288.1:p.Ser378=
XM_011532028.1:c.1095-3370C>T	XP_011530330.1:n.1095-3370C>T
XM_011532029.1:c.414C>T	XP_011530331.1:p.Ser138=
XM_011532030.1:c.294C>T	XP_011530332.1:p.Ser98=
XR_244632.2:n.1229C>T
NR_156488.1:n.1221C>T
XM_011532028.2:c.1095-3370C>T	XP_011530330.1:n.1095-3370C>T
XM_011532030.2:c.294C>T	XP_011530332.1:p.Ser98=
NM_000297.4:c.1134C>T MANE Select	NP_000288.1:p.Ser378=
NR_156488.2:n.1233C>T