Canonical Allele Identifier: CA9396183

Gene: WDR62

Linked Data

• ClinVar Variation Id: 2241998
• ClinVar RCV Id: RCV002747765
• dbSNP Id: rs138098165
• ExAC: 19:36593044 C / T
• gnomAD v2: 19-36593044-C-T
• gnomAD v3: 19-36102142-C-T
• gnomAD v4: 19-36102142-C-T
• MyVariant Identifiers: chr19:g.36593044C>T (hg19) ; chr19:g.36593044_36593075delinsTCCTGCAGAGGTAGGGCCCTGCCTCACCCACA (hg19) ; chr19:g.36102142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102142C>T , CM000681.2:g.36102142C>T	GRCh38
NC_000019.9:g.36593044C>T , CM000681.1:g.36593044C>T	GRCh37
NC_000019.8:g.41284884C>T	NCBI36
NG_028101.1:g.52262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3211C>T	ENSP00000270301.6:p.Pro1071Ser
ENST00000401500.7:c.3211C>T MANE Select	ENSP00000384792.1:p.Pro1071Ser
ENST00000587391.6:c.*2486C>T	ENSP00000465525.1:n.*2486C>T
ENST00000679357.1:c.1001C>T
ENST00000679422.1:c.890C>T
ENST00000679682.1:c.3196C>T	ENSP00000506226.1:p.Pro1066Ser
ENST00000679714.1:c.3205C>T	ENSP00000506627.1:p.Pro1069Ser
ENST00000679757.1:c.2860C>T	ENSP00000505158.1:p.Pro954Ser
ENST00000679858.1:c.*2593C>T	ENSP00000505655.1:n.*2593C>T
ENST00000680211.1:c.-189C>T	ENSP00000506102.1:n.-189C>T
ENST00000680349.1:n.1194C>T
ENST00000680403.1:c.3211C>T	ENSP00000505677.1:p.Pro1071Ser
ENST00000680564.1:c.2972-595C>T	ENSP00000505582.1:n.2972-595C>T
ENST00000680590.1:c.*1606C>T	ENSP00000505350.1:n.*1606C>T
ENST00000680739.1:c.129C>T
ENST00000680773.1:n.1127C>T
ENST00000680806.1:c.*1929C>T	ENSP00000506418.1:n.*1929C>T
ENST00000680997.1:n.558C>T
ENST00000681088.1:c.873C>T
ENST00000681608.1:n.159C>T
ENST00000681625.1:c.*543C>T	ENSP00000505555.1:n.*543C>T
ENST00000270301.11:c.3211C>T	ENSP00000270301.6:p.Pro1071Ser
ENST00000401500.6:c.3211C>T	ENSP00000384792.1:p.Pro1071Ser
ENST00000587391.5:c.*2486C>T	ENSP00000465525.1:n.*2486C>T
NM_001083961.1:c.3211C>T	NP_001077430.1:p.Pro1071Ser
NM_173636.4:c.3211C>T	NP_775907.4:p.Pro1071Ser
XM_005258809.2:c.3100C>T	XP_005258866.1:p.Pro1034Ser
XM_011526837.1:c.3196C>T	XP_011525139.1:p.Pro1066Ser
XM_011526838.1:c.2972-595C>T	XP_011525140.1:n.2972-595C>T
XM_011526839.1:c.2860C>T	XP_011525141.1:p.Pro954Ser
XM_011526840.1:c.2203C>T	XP_011525142.1:p.Pro735Ser
XM_011526841.1:c.1789C>T	XP_011525143.1:p.Pro597Ser
XM_011526842.1:c.1642C>T	XP_011525144.1:p.Pro548Ser
XM_011526843.1:c.958C>T	XP_011525145.1:p.Pro320Ser
XM_011526844.1:c.958C>T	XP_011525146.1:p.Pro320Ser
XM_011526840.2:c.2203C>T	XP_011525142.1:p.Pro735Ser
XM_011526841.2:c.1789C>T	XP_011525143.1:p.Pro597Ser
XM_011526844.2:c.958C>T	XP_011525146.1:p.Pro320Ser
XM_017026665.1:c.3211C>T	XP_016882154.1:p.Pro1071Ser
NM_001083961.2:c.3211C>T MANE Select	NP_001077430.1:p.Pro1071Ser
NM_173636.5:c.3211C>T	NP_775907.4:p.Pro1071Ser