Canonical Allele Identifier: CA8790424
Community Standard Title: NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)
Gene: SRSF2 HGNC NCBI
MFSD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76736877G>C , CM000679.2:g.76736877G>C GRCh38
NC_000017.10:g.74732959G>C , CM000679.1:g.74732959G>C GRCh37
NC_000017.9:g.72244554G>C NCBI36
NG_032905.1:g.5535C>G , LRG_640:g.5535C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001195427.2:c.284C>G (SRSF2) MANE Select NP_001182356.1:p.Pro95Arg
ENST00000359995.10:c.284C>G (SRSF2) MANE Select ENSP00000353089.5:p.Pro95Arg
NM_001195427.1:c.284C>G (SRSF2) NP_001182356.1:p.Pro95Arg
NM_001242534.1:c.-286G>C (MFSD11) NP_001229463.1:n.-286G>C
NM_001242534.2:c.-286G>C (MFSD11) NP_001229463.1:n.-286G>C
NM_001242534.3:c.-286G>C (MFSD11) NP_001229463.1:n.-286G>C
NM_001353017.1:c.-281G>C (MFSD11) NP_001339946.1:n.-281G>C
NM_001353017.2:c.-281G>C (MFSD11) NP_001339946.1:n.-281G>C
NM_003016.4:c.284C>G , LRG_640t1:c.284C>G (SRSF2) NP_003007.2:p.Pro95Arg
NR_036608.1:n.535C>G (SRSF2)
NR_036608.2:n.455C>G (SRSF2)
NR_148229.1:n.313G>C (MFSD11)
NR_148229.2:n.244G>C (MFSD11)
NR_148230.1:n.313G>C (MFSD11)
NR_148230.2:n.244G>C (MFSD11)
NR_148231.1:n.313G>C (MFSD11)
NR_148231.2:n.244G>C (MFSD11)
ENST00000358156.6:c.284C>G (SRSF2) ENSP00000350877.6:p.Pro95Arg
ENST00000358156.7:c.284C>G (SRSF2) ENSP00000350877.7:p.Pro95Arg
ENST00000359995.9:c.284C>G (SRSF2) ENSP00000353089.5:p.Pro95Arg
ENST00000392485.2:c.284C>G (SRSF2) ENSP00000376276.2:p.Pro95Arg
ENST00000452355.7:c.284C>G (SRSF2) ENSP00000391278.3:p.Pro95Arg
ENST00000508921.7:c.284C>G (SRSF2) ENSP00000441780.2:p.Pro95Arg
ENST00000583836.1:c.284C>G (SRSF2) ENSP00000463317.1:p.Pro95Arg
ENST00000585202.5:c.284C>G (SRSF2) ENSP00000462425.1:p.Pro95Arg
ENST00000586622.5:c.-286G>C (MFSD11) ENSP00000466613.1:n.-286G>C
ENST00000587459.1:c.239-1405G>C ENSP00000466829.1:n.239-1405G>C
ENST00000588460.5:c.-1476G>C (MFSD11) ENSP00000464932.1:n.-1476G>C
ENST00000591864.1:c.-286G>C (MFSD11) ENSP00000467375.1:n.-286G>C
ENST00000621483.4:c.-286G>C (MFSD11) ENSP00000485005.1:n.-286G>C
XM_011525238.3:c.-1078G>C (MFSD11) XP_011523540.2:n.-1078G>C
XM_011525239.3:c.-817G>C (MFSD11) XP_011523541.2:n.-817G>C
XM_017024942.2:c.284C>G (SRSF2) XP_016880431.1:p.Pro95Arg
XR_002958053.1:n.456C>G (SRSF2)
XR_002958054.1:n.456C>G (SRSF2)
XR_002958055.1:n.456C>G (SRSF2)
XR_429913.2:n.753C>G (SRSF2)
XR_429913.4:n.456C>G (SRSF2)
XR_429914.2:n.753C>G (SRSF2)
XR_429914.4:n.456C>G (SRSF2)
XR_934515.1:n.753C>G (SRSF2)
XR_934516.1:n.753C>G (SRSF2)