Canonical Allele Identifier: CA357615496

Gene: PKD2

Linked Data

• MyVariant Identifiers: chr4:g.88964432G>C (hg19) ; chr4:g.88043280G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043280G>C , CM000666.2:g.88043280G>C	GRCh38
NC_000004.11:g.88964432G>C , CM000666.1:g.88964432G>C	GRCh37
NC_000004.10:g.89183456G>C	NCBI36
NG_008604.1:g.40613G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1142G>C MANE Select	ENSP00000237596.2:p.Gly381Ala
ENST00000237596.6:c.1142G>C	ENSP00000237596.2:p.Gly381Ala
ENST00000506367.1:n.589G>C
ENST00000508588.5:c.-376G>C	ENSP00000427131.1:n.-376G>C
NM_000297.3:c.1142G>C	NP_000288.1:p.Gly381Ala
XM_011532028.1:c.1095-3362G>C	XP_011530330.1:n.1095-3362G>C
XM_011532029.1:c.422G>C	XP_011530331.1:p.Gly141Ala
XM_011532030.1:c.302G>C	XP_011530332.1:p.Gly101Ala
XR_244632.2:n.1237G>C
NR_156488.1:n.1229G>C
XM_011532028.2:c.1095-3362G>C	XP_011530330.1:n.1095-3362G>C
XM_011532030.2:c.302G>C	XP_011530332.1:p.Gly101Ala
NM_000297.4:c.1142G>C MANE Select	NP_000288.1:p.Gly381Ala
NR_156488.2:n.1241G>C