Canonical Allele Identifier: CA389421646

Gene: CFL2

Linked Data

• gnomAD v4: 14-34713320-T-C
• MyVariant Identifiers: chr14:g.35182526T>C (hg19) ; chr14:g.34713320T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34713320T>C , CM000676.2:g.34713320T>C	GRCh38
NC_000014.8:g.35182526T>C , CM000676.1:g.35182526T>C	GRCh37
NC_000014.7:g.34252277T>C	NCBI36
NG_012740.1:g.6504A>G , LRG_213:g.6504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298159.11:c.245A>G MANE Select	ENSP00000298159.6:p.Tyr82Cys
ENST00000341223.8:c.245A>G	ENSP00000340635.3:p.Tyr82Cys
ENST00000672163.1:c.245A>G	ENSP00000500375.1:p.Tyr82Cys
ENST00000672517.1:c.245A>G	ENSP00000500532.1:p.Tyr82Cys
ENST00000673315.1:c.194A>G	ENSP00000500002.1:p.Tyr65Cys
ENST00000298159.10:c.245A>G	ENSP00000298159.6:p.Tyr82Cys
ENST00000341223.7:c.245A>G	ENSP00000340635.3:p.Tyr82Cys
ENST00000422678.2:c.168+77A>G	ENSP00000409326.2:n.168+77A>G
ENST00000554470.5:c.58-184A>G	ENSP00000450862.1:n.58-184A>G
ENST00000555765.5:c.194A>G	ENSP00000452451.1:p.Tyr65Cys
ENST00000556161.1:c.194A>G	ENSP00000452188.1:p.Tyr65Cys
NM_001243645.1:c.194A>G	NP_001230574.1:p.Tyr65Cys
NM_021914.7:c.245A>G	NP_068733.1:p.Tyr82Cys
NM_138638.4:c.245A>G , LRG_213t1:c.245A>G	NP_619579.1:p.Tyr82Cys
NR_028130.1:n.451+77A>G
NR_028131.1:n.341-184A>G
XM_011536363.1:c.194A>G	XP_011534665.1:p.Tyr65Cys
XM_011536363.3:c.194A>G	XP_011534665.1:p.Tyr65Cys
NM_138638.5:c.245A>G MANE Select	NP_619579.1:p.Tyr82Cys
NM_001243645.2:c.194A>G	NP_001230574.1:p.Tyr65Cys
NM_021914.8:c.245A>G	NP_068733.1:p.Tyr82Cys
NR_028130.2:n.221+77A>G
NR_028131.2:n.111-184A>G