Canonical Allele Identifier: CA440263342

Gene: PKD2

Linked Data

• dbSNP Id: rs1325762703
• gnomAD v2: 4-88968004-G-C
• gnomAD v4: 4-88046852-G-C
• MyVariant Identifiers: chr4:g.88968004G>C (hg19) ; chr4:g.88046852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046852G>C , CM000666.2:g.88046852G>C	GRCh38
NC_000004.11:g.88968004G>C , CM000666.1:g.88968004G>C	GRCh37
NC_000004.10:g.89187028G>C	NCBI36
NG_008604.1:g.44185G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1530G>C MANE Select	ENSP00000237596.2:p.Leu510=
ENST00000237596.6:c.1530G>C	ENSP00000237596.2:p.Leu510=
ENST00000508588.5:c.-199+3395G>C	ENSP00000427131.1:n.-199+3395G>C
NM_000297.3:c.1530G>C	NP_000288.1:p.Leu510=
XM_011532028.1:c.1305G>C	XP_011530330.1:p.Leu435=
XM_011532029.1:c.810G>C	XP_011530331.1:p.Leu270=
XM_011532030.1:c.690G>C	XP_011530332.1:p.Leu230=
XR_244632.2:n.1625G>C
NR_156488.1:n.1617G>C
XM_011532028.2:c.1305G>C	XP_011530330.1:p.Leu435=
XM_011532030.2:c.690G>C	XP_011530332.1:p.Leu230=
NM_000297.4:c.1530G>C MANE Select	NP_000288.1:p.Leu510=
NR_156488.2:n.1629G>C