Canonical Allele Identifier: CA389421914

Gene: CFL2

Linked Data

• ClinVar Variation Id: 1469897
• ClinVar RCV Id: RCV001961804
• dbSNP Id: rs2138474697
• MyVariant Identifiers: chr14:g.35182644C>T (hg19) ; chr14:g.34713438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34713438C>T , CM000676.2:g.34713438C>T	GRCh38
NC_000014.8:g.35182644C>T , CM000676.1:g.35182644C>T	GRCh37
NC_000014.7:g.34252395C>T	NCBI36
NG_012740.1:g.6386G>A , LRG_213:g.6386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298159.11:c.127G>A MANE Select	ENSP00000298159.6:p.Asp43Asn
ENST00000341223.8:c.127G>A	ENSP00000340635.3:p.Asp43Asn
ENST00000672163.1:c.127G>A	ENSP00000500375.1:p.Asp43Asn
ENST00000672517.1:c.127G>A	ENSP00000500532.1:p.Asp43Asn
ENST00000673315.1:c.76G>A	ENSP00000500002.1:p.Asp26Asn
ENST00000298159.10:c.127G>A	ENSP00000298159.6:p.Asp43Asn
ENST00000341223.7:c.127G>A	ENSP00000340635.3:p.Asp43Asn
ENST00000422678.2:c.127G>A	ENSP00000409326.2:p.Asp43Asn
ENST00000554470.5:c.57+70G>A	ENSP00000450862.1:n.57+70G>A
ENST00000555765.5:c.76G>A	ENSP00000452451.1:p.Asp26Asn
ENST00000556161.1:c.76G>A	ENSP00000452188.1:p.Asp26Asn
NM_001243645.1:c.76G>A	NP_001230574.1:p.Asp26Asn
NM_021914.7:c.127G>A	NP_068733.1:p.Asp43Asn
NM_138638.4:c.127G>A , LRG_213t1:c.127G>A	NP_619579.1:p.Asp43Asn
NR_028130.1:n.410G>A
NR_028131.1:n.340+70G>A
XM_011536363.1:c.76G>A	XP_011534665.1:p.Asp26Asn
XM_011536363.3:c.76G>A	XP_011534665.1:p.Asp26Asn
NM_138638.5:c.127G>A MANE Select	NP_619579.1:p.Asp43Asn
NM_001243645.2:c.76G>A	NP_001230574.1:p.Asp26Asn
NM_021914.8:c.127G>A	NP_068733.1:p.Asp43Asn
NR_028130.2:n.180G>A
NR_028131.2:n.110+70G>A