Canonical Allele Identifier: CA240436

Gene: PKD2

Linked Data

• ClinVar Variation Id: 194468
• ClinVar RCV Id: RCV000174840 ; RCV002056924 ; RCV003975278
• dbSNP Id: rs749666891
• ExAC: 4:88996785 C / G
• gnomAD v2: 4-88996785-C-G
• gnomAD v3: 4-88075633-C-G
• gnomAD v4: 4-88075633-C-G
• MyVariant Identifiers: chr4:g.88996785C>G (hg19) ; chr4:g.88075633C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88075633C>G , CM000666.2:g.88075633C>G	GRCh38
NC_000004.11:g.88996785C>G , CM000666.1:g.88996785C>G	GRCh37
NC_000004.10:g.89215809C>G	NCBI36
NG_008604.1:g.72966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.2846C>G MANE Select	ENSP00000237596.2:p.Ser949Cys
ENST00000237596.6:c.2846C>G	ENSP00000237596.2:p.Ser949Cys
ENST00000502363.1:c.1100C>G	ENSP00000425289.1:p.Ser367Cys
ENST00000508588.5:c.1100C>G	ENSP00000427131.1:p.Ser367Cys
ENST00000511337.5:n.1098C>G
ENST00000512858.1:n.1324C>G
NM_000297.3:c.2846C>G	NP_000288.1:p.Ser949Cys
XM_011532028.1:c.2621C>G	XP_011530330.1:p.Ser874Cys
XM_011532029.1:c.2126C>G	XP_011530331.1:p.Ser709Cys
XM_011532030.1:c.2006C>G	XP_011530332.1:p.Ser669Cys
NR_156488.1:n.2812C>G
XM_011532028.2:c.2621C>G	XP_011530330.1:p.Ser874Cys
XM_011532030.2:c.2006C>G	XP_011530332.1:p.Ser669Cys
NM_000297.4:c.2846C>G MANE Select	NP_000288.1:p.Ser949Cys
NR_156488.2:n.2824C>G