Canonical Allele Identifier: CA14387705

Gene: SRSF2 MFSD11

Linked Data

• dbSNP Id: rs3744061
• gnomAD v2: 17-74733403-G-A
• gnomAD v3: 17-76737321-G-A
• gnomAD v4: 17-76737321-G-A
• MyVariant Identifiers: chr17:g.74733403G>A (hg19) ; chr17:g.76737321G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76737321G>A , CM000679.2:g.76737321G>A	GRCh38
NC_000017.10:g.74733403G>A , CM000679.1:g.74733403G>A	GRCh37
NC_000017.9:g.72244998G>A	NCBI36
NG_032905.1:g.5091C>T , LRG_640:g.5091C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358156.7:c.-161C>T (SRSF2)	ENSP00000350877.7:n.-161C>T
ENST00000359995.10:c.-161C>T (SRSF2) MANE Select	ENSP00000353089.5:n.-161C>T
ENST00000358156.6:c.-161C>T (SRSF2)	ENSP00000350877.6:n.-161C>T
ENST00000359995.9:c.-161C>T (SRSF2)	ENSP00000353089.5:n.-161C>T
ENST00000392485.2:c.-161C>T (SRSF2)	ENSP00000376276.2:n.-161C>T
ENST00000452355.7:c.-161C>T (SRSF2)	ENSP00000391278.3:n.-161C>T
ENST00000508921.7:c.-161C>T (SRSF2)	ENSP00000441780.2:n.-161C>T
ENST00000583836.1:c.-161C>T (SRSF2)	ENSP00000463317.1:n.-161C>T
ENST00000586622.5:c.-72+230G>A (MFSD11)	ENSP00000466613.1:n.-72+230G>A
ENST00000587459.1:c.239-961G>A	ENSP00000466829.1:n.239-961G>A
ENST00000588460.5:c.-1032G>A (MFSD11)	ENSP00000464932.1:n.-1032G>A
ENST00000591864.1:c.-72+230G>A (MFSD11)	ENSP00000467375.1:n.-72+230G>A
ENST00000621483.4:c.-72+230G>A (MFSD11)	ENSP00000485005.1:n.-72+230G>A
NM_001195427.1:c.-161C>T (SRSF2)	NP_001182356.1:n.-161C>T
NM_001242534.1:c.-72+230G>A (MFSD11)	NP_001229463.1:n.-72+230G>A
NM_003016.4:c.-161C>T , LRG_640t1:c.-161C>T (SRSF2)	NP_003007.2:n.-161C>T
NR_036608.1:n.91C>T (SRSF2)
XR_429913.2:n.309C>T (SRSF2)
XR_429914.2:n.309C>T (SRSF2)
XR_934515.1:n.309C>T (SRSF2)
XR_934516.1:n.309C>T (SRSF2)
NM_001242534.2:c.-72+230G>A (MFSD11)	NP_001229463.1:n.-72+230G>A
NM_001353017.1:c.-72+235G>A (MFSD11)	NP_001339946.1:n.-72+235G>A
NR_148229.1:n.527+230G>A (MFSD11)
NR_148230.1:n.527+230G>A (MFSD11)
NR_148231.1:n.527+230G>A (MFSD11)
XM_011525238.3:c.-634G>A (MFSD11)	XP_011523540.2:n.-634G>A
XM_011525239.3:c.-373G>A (MFSD11)	XP_011523541.2:n.-373G>A
XM_017024942.2:c.-161C>T (SRSF2)	XP_016880431.1:n.-161C>T
XR_002958053.1:n.12C>T (SRSF2)
XR_002958054.1:n.12C>T (SRSF2)
XR_002958055.1:n.12C>T (SRSF2)
XR_429913.4:n.12C>T (SRSF2)
XR_429914.4:n.12C>T (SRSF2)
NM_001195427.2:c.-161C>T (SRSF2) MANE Select	NP_001182356.1:n.-161C>T
NR_036608.2:n.11C>T (SRSF2)
NM_001242534.3:c.-72+230G>A (MFSD11)	NP_001229463.1:n.-72+230G>A
NM_001353017.2:c.-72+235G>A (MFSD11)	NP_001339946.1:n.-72+235G>A
NR_148229.2:n.458+230G>A (MFSD11)
NR_148230.2:n.458+230G>A (MFSD11)
NR_148231.2:n.458+230G>A (MFSD11)