Canonical Allele Identifier: CA9396172

Gene: WDR62

Linked Data

• ClinVar Variation Id: 328921
• ClinVar RCV Id: RCV000309409
• dbSNP Id: rs777428608
• ExAC: 19:36592994 C / G
• gnomAD v2: 19-36592994-C-G
• gnomAD v4: 19-36102092-C-G
• MyVariant Identifiers: chr19:g.36592994C>G (hg19) ; chr19:g.36102092C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102092C>G , CM000681.2:g.36102092C>G	GRCh38
NC_000019.9:g.36592994C>G , CM000681.1:g.36592994C>G	GRCh37
NC_000019.8:g.41284834C>G	NCBI36
NG_028101.1:g.52212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3161C>G	ENSP00000270301.6:p.Pro1054Arg
ENST00000401500.7:c.3161C>G MANE Select	ENSP00000384792.1:p.Pro1054Arg
ENST00000587391.6:c.*2436C>G	ENSP00000465525.1:n.*2436C>G
ENST00000679357.1:c.951C>G
ENST00000679422.1:c.840C>G
ENST00000679682.1:c.3146C>G	ENSP00000506226.1:p.Pro1049Arg
ENST00000679714.1:c.3155C>G	ENSP00000506627.1:p.Pro1052Arg
ENST00000679757.1:c.2810C>G	ENSP00000505158.1:p.Pro937Arg
ENST00000679858.1:c.*2543C>G	ENSP00000505655.1:n.*2543C>G
ENST00000680211.1:c.-239C>G	ENSP00000506102.1:n.-239C>G
ENST00000680349.1:n.1144C>G
ENST00000680403.1:c.3161C>G	ENSP00000505677.1:p.Pro1054Arg
ENST00000680564.1:c.2972-645C>G	ENSP00000505582.1:n.2972-645C>G
ENST00000680590.1:c.*1556C>G	ENSP00000505350.1:n.*1556C>G
ENST00000680739.1:c.79C>G
ENST00000680773.1:n.1077C>G
ENST00000680806.1:c.*1879C>G	ENSP00000506418.1:n.*1879C>G
ENST00000680997.1:n.508C>G
ENST00000681088.1:c.823C>G
ENST00000681608.1:n.109C>G
ENST00000681625.1:c.*493C>G	ENSP00000505555.1:n.*493C>G
ENST00000270301.11:c.3161C>G	ENSP00000270301.6:p.Pro1054Arg
ENST00000401500.6:c.3161C>G	ENSP00000384792.1:p.Pro1054Arg
ENST00000587391.5:c.*2436C>G	ENSP00000465525.1:n.*2436C>G
NM_001083961.1:c.3161C>G	NP_001077430.1:p.Pro1054Arg
NM_173636.4:c.3161C>G	NP_775907.4:p.Pro1054Arg
XM_005258809.2:c.3050C>G	XP_005258866.1:p.Pro1017Arg
XM_011526837.1:c.3146C>G	XP_011525139.1:p.Pro1049Arg
XM_011526838.1:c.2972-645C>G	XP_011525140.1:n.2972-645C>G
XM_011526839.1:c.2810C>G	XP_011525141.1:p.Pro937Arg
XM_011526840.1:c.2153C>G	XP_011525142.1:p.Pro718Arg
XM_011526841.1:c.1739C>G	XP_011525143.1:p.Pro580Arg
XM_011526842.1:c.1592C>G	XP_011525144.1:p.Pro531Arg
XM_011526843.1:c.908C>G	XP_011525145.1:p.Pro303Arg
XM_011526844.1:c.908C>G	XP_011525146.1:p.Pro303Arg
XM_011526840.2:c.2153C>G	XP_011525142.1:p.Pro718Arg
XM_011526841.2:c.1739C>G	XP_011525143.1:p.Pro580Arg
XM_011526844.2:c.908C>G	XP_011525146.1:p.Pro303Arg
XM_017026665.1:c.3161C>G	XP_016882154.1:p.Pro1054Arg
NM_001083961.2:c.3161C>G MANE Select	NP_001077430.1:p.Pro1054Arg
NM_173636.5:c.3161C>G	NP_775907.4:p.Pro1054Arg