Canonical Allele Identifier: CA231017

Gene: CFL2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34712909A>C , CM000676.2:g.34712909A>C	GRCh38
NC_000014.8:g.35182115A>C , CM000676.1:g.35182115A>C	GRCh37
NC_000014.7:g.34251866A>C	NCBI36
NG_012740.1:g.6915T>G , LRG_213:g.6915T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138638.5:c.457T>G MANE Select	NP_619579.1:p.Leu153Val
ENST00000298159.11:c.457T>G MANE Select	ENSP00000298159.6:p.Leu153Val
NM_001243645.1:c.406T>G	NP_001230574.1:p.Leu136Val
NM_001243645.2:c.406T>G	NP_001230574.1:p.Leu136Val
NM_021914.7:c.457T>G	NP_068733.1:p.Leu153Val
NM_021914.8:c.457T>G	NP_068733.1:p.Leu153Val
NM_138638.4:c.457T>G , LRG_213t1:c.457T>G	NP_619579.1:p.Leu153Val
NR_028130.1:n.597T>G
NR_028130.2:n.367T>G
NR_028131.1:n.486T>G
NR_028131.2:n.256T>G
ENST00000298159.10:c.457T>G	ENSP00000298159.6:p.Leu153Val
ENST00000341223.7:c.457T>G	ENSP00000340635.3:p.Leu153Val
ENST00000341223.8:c.457T>G	ENSP00000340635.3:p.Leu153Val
ENST00000422678.2:c.*137T>G	ENSP00000409326.2:n.*137T>G
ENST00000554470.5:c.*137T>G	ENSP00000450862.1:n.*137T>G
ENST00000555765.5:c.406T>G	ENSP00000452451.1:p.Leu136Val
ENST00000556161.1:c.406T>G	ENSP00000452188.1:p.Leu136Val
ENST00000672163.1:c.457T>G	ENSP00000500375.1:p.Leu153Val
ENST00000672517.1:c.457T>G	ENSP00000500532.1:p.Leu153Val
ENST00000673315.1:c.406T>G	ENSP00000500002.1:p.Leu136Val
XM_011536363.1:c.406T>G	XP_011534665.1:p.Leu136Val
XM_011536363.3:c.406T>G	XP_011534665.1:p.Leu136Val