Canonical Allele Identifier: CA289148
Gene: ACTG2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.73909130C>A
GRCh37 chr2:g.74136257C>A
Revel Score:
ENST00000409731 0.951
ENST00000345517 (MANE Select) 0.951
ENST00000409624 0.951
ClinVar RCV:
RCV000119266
RCV000210361
ClinVar Variation:
132797
dbSNP:
587777383
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73909130C>A , CM000664.2:g.73909130C>A GRCh38
NC_000002.11:g.74136257C>A , CM000664.1:g.74136257C>A GRCh37
NC_000002.10:g.73989765C>A NCBI36
NG_034140.1:g.21165C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000345517.8:c.442C>A MANE Select ENSP00000295137.3:p.Arg148Ser
ENST00000345517.7:c.442C>A ENSP00000295137.3:p.Arg148Ser
ENST00000409624.1:c.442C>A ENSP00000386857.1:p.Arg148Ser
ENST00000409731.7:c.313C>A ENSP00000386929.3:p.Arg105Ser
ENST00000429756.5:c.*197C>A ENSP00000392894.1:n.*197C>A
ENST00000438902.6:c.*507C>A ENSP00000410706.2:n.*507C>A
NM_001199893.1:c.313C>A NP_001186822.1:p.Arg105Ser
NM_001615.3:c.442C>A NP_001606.1:p.Arg148Ser
NM_001199893.2:c.313C>A NP_001186822.1:p.Arg105Ser
NM_001615.4:c.442C>A MANE Select NP_001606.1:p.Arg148Ser
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