Canonical Allele Identifier: CA389421134

Gene: CFL2

Linked Data

• ClinVar Variation Id: 583009
• ClinVar RCV Id: RCV000707226
• dbSNP Id: rs1566525113
• MyVariant Identifiers: chr14:g.35182266C>G (hg19) ; chr14:g.34713060C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34713060C>G , CM000676.2:g.34713060C>G	GRCh38
NC_000014.8:g.35182266C>G , CM000676.1:g.35182266C>G	GRCh37
NC_000014.7:g.34252017C>G	NCBI36
NG_012740.1:g.6764G>C , LRG_213:g.6764G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298159.11:c.388G>C MANE Select	ENSP00000298159.6:p.Gly130Arg
ENST00000341223.8:c.388G>C	ENSP00000340635.3:p.Gly130Arg
ENST00000672163.1:c.388G>C	ENSP00000500375.1:p.Gly130Arg
ENST00000672517.1:c.388G>C	ENSP00000500532.1:p.Gly130Arg
ENST00000673315.1:c.337G>C	ENSP00000500002.1:p.Gly113Arg
ENST00000298159.10:c.388G>C	ENSP00000298159.6:p.Gly130Arg
ENST00000341223.7:c.388G>C	ENSP00000340635.3:p.Gly130Arg
ENST00000422678.2:c.*68G>C	ENSP00000409326.2:n.*68G>C
ENST00000554470.5:c.*68G>C	ENSP00000450862.1:n.*68G>C
ENST00000555765.5:c.337G>C	ENSP00000452451.1:p.Gly113Arg
ENST00000556161.1:c.337G>C	ENSP00000452188.1:p.Gly113Arg
NM_001243645.1:c.337G>C	NP_001230574.1:p.Gly113Arg
NM_021914.7:c.388G>C	NP_068733.1:p.Gly130Arg
NM_138638.4:c.388G>C , LRG_213t1:c.388G>C	NP_619579.1:p.Gly130Arg
NR_028130.1:n.528G>C
NR_028131.1:n.417G>C
XM_011536363.1:c.337G>C	XP_011534665.1:p.Gly113Arg
XM_011536363.3:c.337G>C	XP_011534665.1:p.Gly113Arg
NM_138638.5:c.388G>C MANE Select	NP_619579.1:p.Gly130Arg
NM_001243645.2:c.337G>C	NP_001230574.1:p.Gly113Arg
NM_021914.8:c.388G>C	NP_068733.1:p.Gly130Arg
NR_028130.2:n.298G>C
NR_028131.2:n.187G>C