Canonical Allele Identifier: CA9890163

Gene: ELMO2

Linked Data

• ClinVar Variation Id: 254191
• ClinVar RCV Id: RCV000240813
• dbSNP Id: rs768410753
• ExAC: 20:45003874 C / T
• gnomAD v3: 20-46375235-C-T
• gnomAD v4: 20-46375235-C-T
• COSMIC: COSM6228116 ; COSM6228117
• MyVariant Identifiers: chr20:g.45003874C>T (hg19) ; chr20:g.46375235C>T (hg38)
• PubMed: PMID:11932989 ; PMID:27476657

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46375235C>T , CM000682.2:g.46375235C>T	GRCh38
NC_000020.10:g.45003874C>T , CM000682.1:g.45003874C>T	GRCh37
NC_000020.9:g.44437281C>T	NCBI36
NG_053169.1:g.36817G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000290246.11:c.1065+1G>A MANE Select	ENSP00000290246.6:n.1065+1G>A
ENST00000290246.10:c.1065+1G>A	ENSP00000290246.6:n.1065+1G>A
ENST00000352077.6:c.1059+1G>A	ENSP00000326172.4:n.1059+1G>A
ENST00000372176.5:c.801+1G>A	ENSP00000361249.1:n.801+1G>A
ENST00000396391.5:c.1065+1G>A	ENSP00000379673.1:n.1065+1G>A
ENST00000425546.5:c.429+1G>A	ENSP00000388962.1:n.429+1G>A
ENST00000462491.5:n.429+1G>A
ENST00000467800.5:c.239+1G>A
ENST00000481852.5:n.522+1G>A
ENST00000488853.5:n.1142+1G>A
NM_133171.3:c.1065+1G>A	NP_573403.1:n.1065+1G>A
NM_182764.1:c.1065+1G>A	NP_877496.1:n.1065+1G>A
XM_005260496.2:c.1065+1G>A	XP_005260553.1:n.1065+1G>A
XM_005260497.2:c.801+1G>A	XP_005260554.1:n.801+1G>A
XM_005260498.2:c.801+1G>A	XP_005260555.1:n.801+1G>A
XM_005260499.2:c.801+1G>A	XP_005260556.1:n.801+1G>A
XM_005260500.2:c.801+1G>A	XP_005260557.1:n.801+1G>A
XM_005260501.3:c.516+1G>A	XP_005260558.1:n.516+1G>A
XM_005260502.3:c.516+1G>A	XP_005260559.1:n.516+1G>A
XM_006723854.2:c.1065+1G>A	XP_006723917.1:n.1065+1G>A
NM_001318253.1:c.801+1G>A	NP_001305182.1:n.801+1G>A
NM_133171.4:c.1065+1G>A	NP_573403.1:n.1065+1G>A
NM_182764.2:c.1065+1G>A	NP_877496.1:n.1065+1G>A
XM_005260496.3:c.1065+1G>A	XP_005260553.1:n.1065+1G>A
XM_005260498.3:c.801+1G>A	XP_005260555.1:n.801+1G>A
XM_005260499.3:c.801+1G>A	XP_005260556.1:n.801+1G>A
XM_005260500.3:c.801+1G>A	XP_005260557.1:n.801+1G>A
XM_005260501.5:c.516+1G>A	XP_005260558.1:n.516+1G>A
XM_006723854.3:c.1065+1G>A	XP_006723917.1:n.1065+1G>A
XM_017028009.1:c.516+1G>A	XP_016883498.1:n.516+1G>A
XM_017028010.1:c.516+1G>A	XP_016883499.1:n.516+1G>A
XM_017028011.1:c.516+1G>A	XP_016883500.1:n.516+1G>A
XM_024451961.1:c.516+1G>A	XP_024307729.1:n.516+1G>A
NM_133171.5:c.1065+1G>A MANE Select	NP_573403.1:n.1065+1G>A
NM_001318253.2:c.801+1G>A	NP_001305182.1:n.801+1G>A
NM_182764.3:c.1065+1G>A	NP_877496.1:n.1065+1G>A