Canonical Allele Identifier: CA405448981

Gene: WDR62

Linked Data

• ClinVar Variation Id: 1806268
• ClinVar RCV Id: RCV002470552
• MyVariant Identifiers: chr19:g.36592578C>G (hg19) ; chr19:g.36101676C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36101676C>G , CM000681.2:g.36101676C>G	GRCh38
NC_000019.9:g.36592578C>G , CM000681.1:g.36592578C>G	GRCh37
NC_000019.8:g.41284418C>G	NCBI36
NG_028101.1:g.51796C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.2984C>G	ENSP00000270301.6:p.Ser995Ter
ENST00000401500.7:c.2984C>G MANE Select	ENSP00000384792.1:p.Ser995Ter
ENST00000587391.6:c.*2020C>G	ENSP00000465525.1:n.*2020C>G
ENST00000679357.1:c.774C>G
ENST00000679422.1:c.762-338C>G
ENST00000679682.1:c.2969C>G	ENSP00000506226.1:p.Ser990Ter
ENST00000679714.1:c.2978C>G	ENSP00000506627.1:p.Ser993Ter
ENST00000679757.1:c.2633C>G	ENSP00000505158.1:p.Ser878Ter
ENST00000679858.1:c.*2127C>G	ENSP00000505655.1:n.*2127C>G
ENST00000680211.1:c.-416C>G	ENSP00000506102.1:n.-416C>G
ENST00000680349.1:n.967C>G
ENST00000680403.1:c.2984C>G	ENSP00000505677.1:p.Ser995Ter
ENST00000680564.1:c.2971+359C>G	ENSP00000505582.1:n.2971+359C>G
ENST00000680590.1:c.*1379C>G	ENSP00000505350.1:n.*1379C>G
ENST00000680773.1:n.661C>G
ENST00000680806.1:c.*1801-338C>G	ENSP00000506418.1:n.*1801-338C>G
ENST00000680997.1:n.331C>G
ENST00000681088.1:c.646C>G
ENST00000681625.1:c.*316C>G	ENSP00000505555.1:n.*316C>G
ENST00000270301.11:c.2984C>G	ENSP00000270301.6:p.Ser995Ter
ENST00000401500.6:c.2984C>G	ENSP00000384792.1:p.Ser995Ter
ENST00000587391.5:c.*2020C>G	ENSP00000465525.1:n.*2020C>G
NM_001083961.1:c.2984C>G	NP_001077430.1:p.Ser995Ter
NM_173636.4:c.2984C>G	NP_775907.4:p.Ser995Ter
XM_005258809.2:c.2972-338C>G	XP_005258866.1:n.2972-338C>G
XM_011526837.1:c.2969C>G	XP_011525139.1:p.Ser990Ter
XM_011526838.1:c.2971+359C>G	XP_011525140.1:n.2971+359C>G
XM_011526839.1:c.2633C>G	XP_011525141.1:p.Ser878Ter
XM_011526840.1:c.1976C>G	XP_011525142.1:p.Ser659Ter
XM_011526841.1:c.1562C>G	XP_011525143.1:p.Ser521Ter
XM_011526842.1:c.1415C>G	XP_011525144.1:p.Ser472Ter
XM_011526843.1:c.731C>G	XP_011525145.1:p.Ser244Ter
XM_011526844.1:c.731C>G	XP_011525146.1:p.Ser244Ter
XM_011526840.2:c.1976C>G	XP_011525142.1:p.Ser659Ter
XM_011526841.2:c.1562C>G	XP_011525143.1:p.Ser521Ter
XM_011526844.2:c.731C>G	XP_011525146.1:p.Ser244Ter
XM_017026665.1:c.2984C>G	XP_016882154.1:p.Ser995Ter
NM_001083961.2:c.2984C>G MANE Select	NP_001077430.1:p.Ser995Ter
NM_173636.5:c.2984C>G	NP_775907.4:p.Ser995Ter