Canonical Allele Identifier: CA2810481688

Gene: SRSF2 MFSD11

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76736702G>C , CM000679.2:g.76736702G>C	GRCh38
NC_000017.10:g.74732784G>C , CM000679.1:g.74732784G>C	GRCh37
NC_000017.9:g.72244379G>C	NCBI36
NG_032905.1:g.5710C>G , LRG_640:g.5710C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358156.7:c.362+97C>G (SRSF2)	ENSP00000350877.7:n.362+97C>G
ENST00000359995.10:c.362+97C>G (SRSF2) MANE Select	ENSP00000353089.5:n.362+97C>G
ENST00000358156.6:c.362+97C>G (SRSF2)	ENSP00000350877.6:n.362+97C>G
ENST00000359995.9:c.362+97C>G (SRSF2)	ENSP00000353089.5:n.362+97C>G
ENST00000392485.2:c.362+97C>G (SRSF2)	ENSP00000376276.2:n.362+97C>G
ENST00000452355.7:c.362+97C>G (SRSF2)	ENSP00000391278.3:n.362+97C>G
ENST00000508921.7:c.326+133C>G (SRSF2)	ENSP00000441780.2:n.326+133C>G
ENST00000583836.1:c.326+133C>G (SRSF2)	ENSP00000463317.1:n.326+133C>G
ENST00000585202.5:c.362+97C>G (SRSF2)	ENSP00000462425.1:n.362+97C>G
ENST00000586622.5:c.-461G>C (MFSD11)	ENSP00000466613.1:n.-461G>C
ENST00000587459.1:c.239-1580G>C	ENSP00000466829.1:n.239-1580G>C
ENST00000588460.5:c.-1651G>C (MFSD11)	ENSP00000464932.1:n.-1651G>C
ENST00000621483.4:c.-461G>C (MFSD11)	ENSP00000485005.1:n.-461G>C
NM_001195427.1:c.362+97C>G (SRSF2)	NP_001182356.1:n.362+97C>G
NM_001242534.1:c.-461G>C (MFSD11)	NP_001229463.1:n.-461G>C
NM_003016.4:c.362+97C>G , LRG_640t1:c.362+97C>G (SRSF2)	NP_003007.2:n.362+97C>G
NR_036608.1:n.613+97C>G (SRSF2)
XR_429913.2:n.831+97C>G (SRSF2)
XR_429914.2:n.831+97C>G (SRSF2)
XR_934515.1:n.831+97C>G (SRSF2)
XR_934516.1:n.831+97C>G (SRSF2)
NM_001242534.2:c.-461G>C (MFSD11)	NP_001229463.1:n.-461G>C
NM_001353017.1:c.-456G>C (MFSD11)	NP_001339946.1:n.-456G>C
NR_148229.1:n.138G>C (MFSD11)
NR_148230.1:n.138G>C (MFSD11)
NR_148231.1:n.138G>C (MFSD11)
XM_017024942.2:c.362+97C>G (SRSF2)	XP_016880431.1:n.362+97C>G
XR_002958053.1:n.534+97C>G (SRSF2)
XR_002958054.1:n.534+97C>G (SRSF2)
XR_002958055.1:n.534+97C>G (SRSF2)
XR_429913.4:n.534+97C>G (SRSF2)
XR_429914.4:n.534+97C>G (SRSF2)
NM_001195427.2:c.362+97C>G (SRSF2) MANE Select	NP_001182356.1:n.362+97C>G
NR_036608.2:n.533+97C>G (SRSF2)
NM_001242534.3:c.-461G>C (MFSD11)	NP_001229463.1:n.-461G>C
NM_001353017.2:c.-456G>C (MFSD11)	NP_001339946.1:n.-456G>C
NR_148229.2:n.69G>C (MFSD11)
NR_148230.2:n.69G>C (MFSD11)
NR_148231.2:n.69G>C (MFSD11)