Canonical Allele Identifier: CA7152316

Gene: CFL2

Linked Data

• dbSNP Id: rs771794609
• ExAC: 14:35182592 A / G
• gnomAD v2: 14-35182592-A-G
• gnomAD v3: 14-34713386-A-G
• gnomAD v4: 14-34713386-A-G
• MyVariant Identifiers: chr14:g.35182592A>G (hg19) ; chr14:g.34713386A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34713386A>G , CM000676.2:g.34713386A>G	GRCh38
NC_000014.8:g.35182592A>G , CM000676.1:g.35182592A>G	GRCh37
NC_000014.7:g.34252343A>G	NCBI36
NG_012740.1:g.6438T>C , LRG_213:g.6438T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298159.11:c.179T>C MANE Select	ENSP00000298159.6:p.Ile60Thr
ENST00000341223.8:c.179T>C	ENSP00000340635.3:p.Ile60Thr
ENST00000672163.1:c.179T>C	ENSP00000500375.1:p.Ile60Thr
ENST00000672517.1:c.179T>C	ENSP00000500532.1:p.Ile60Thr
ENST00000673315.1:c.128T>C	ENSP00000500002.1:p.Ile43Thr
ENST00000298159.10:c.179T>C	ENSP00000298159.6:p.Ile60Thr
ENST00000341223.7:c.179T>C	ENSP00000340635.3:p.Ile60Thr
ENST00000422678.2:c.168+11T>C	ENSP00000409326.2:n.168+11T>C
ENST00000554470.5:c.57+122T>C	ENSP00000450862.1:n.57+122T>C
ENST00000555765.5:c.128T>C	ENSP00000452451.1:p.Ile43Thr
ENST00000556161.1:c.128T>C	ENSP00000452188.1:p.Ile43Thr
NM_001243645.1:c.128T>C	NP_001230574.1:p.Ile43Thr
NM_021914.7:c.179T>C	NP_068733.1:p.Ile60Thr
NM_138638.4:c.179T>C , LRG_213t1:c.179T>C	NP_619579.1:p.Ile60Thr
NR_028130.1:n.451+11T>C
NR_028131.1:n.340+122T>C
XM_011536363.1:c.128T>C	XP_011534665.1:p.Ile43Thr
XM_011536363.3:c.128T>C	XP_011534665.1:p.Ile43Thr
NM_138638.5:c.179T>C MANE Select	NP_619579.1:p.Ile60Thr
NM_001243645.2:c.128T>C	NP_001230574.1:p.Ile43Thr
NM_021914.8:c.179T>C	NP_068733.1:p.Ile60Thr
NR_028130.2:n.221+11T>C
NR_028131.2:n.110+122T>C