Canonical Allele Identifier: CA1167376
Gene: SH2D2A HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156815190T>C , CM000663.2:g.156815190T>C GRCh38
NC_000001.10:g.156784982T>C , CM000663.1:g.156784982T>C GRCh37
NC_000001.9:g.155051606T>C NCBI36
NG_007493.1:g.4441T>C , LRG_261:g.4441T>C
NG_016849.1:g.6659A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368199.8:c.155A>G MANE Select ENSP00000357182.3:p.Asn52Ser
ENST00000368198.7:c.101A>G ENSP00000357181.3:p.Asn34Ser
ENST00000368199.7:c.155A>G ENSP00000357182.3:p.Asn52Ser
ENST00000392306.2:c.155A>G ENSP00000376123.2:p.Asn52Ser
ENST00000486350.1:n.222A>G
ENST00000495306.1:n.207A>G
NM_001161441.1:c.155A>G NP_001154913.1:p.Asn52Ser
NM_001161442.1:c.101A>G NP_001154914.1:p.Asn34Ser
NM_001161443.1:c.71A>G NP_001154915.1:p.Asn24Ser
NM_001161444.1:c.155A>G NP_001154916.1:p.Asn52Ser
NM_003975.3:c.155A>G NP_003966.2:p.Asn52Ser
XM_006711615.1:c.173A>G XP_006711678.1:p.Asn58Ser
XM_011510113.1:c.161A>G XP_011508415.1:p.Asn54Ser
XM_011510114.1:c.89A>G XP_011508416.1:p.Asn30Ser
XM_011510115.1:c.173A>G XP_011508417.1:p.Asn58Ser
XM_006711615.2:c.173A>G XP_006711678.1:p.Asn58Ser
XM_017002762.2:c.173A>G XP_016858251.1:p.Asn58Ser
XM_017002763.1:c.161A>G XP_016858252.1:p.Asn54Ser
XM_017002764.2:c.143A>G XP_016858253.1:p.Asn48Ser
XM_017002765.1:c.101A>G XP_016858254.1:p.Asn34Ser
XM_017002766.1:c.89A>G XP_016858255.1:p.Asn30Ser
XM_017002767.1:c.173A>G XP_016858256.1:p.Asn58Ser
NM_001161442.2:c.101A>G NP_001154914.1:p.Asn34Ser
NM_001161443.2:c.71A>G NP_001154915.1:p.Asn24Ser
NM_001161444.2:c.155A>G NP_001154916.1:p.Asn52Ser
NM_003975.4:c.155A>G MANE Select NP_003966.2:p.Asn52Ser
NM_001161441.2:c.155A>G NP_001154913.1:p.Asn52Ser