Canonical Allele Identifier: CA645546434

Gene: FBN2

Linked Data

• COSMIC: COSM1696138 ; COSM1696139

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332941_128332942delinsTT , CM000667.2:g.128332941_128332942delinsTT	GRCh38
NC_000005.9:g.127668633_127668634delinsTT , CM000667.1:g.127668633_127668634delinsTT	GRCh37
NC_000005.8:g.127696532_127696533delinsTT	NCBI36
NG_008750.1:g.210102_210103delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.976_977delinsAA
ENST00000703785.1:n.1057_1058delinsAA
ENST00000262464.9:c.4192_4193delinsAA MANE Select	ENSP00000262464.4:p.Gly1398Asn
ENST00000262464.8:c.4192_4193delinsAA	ENSP00000262464.4:p.Gly1398Asn
ENST00000507835.5:c.742_743delinsAA	ENSP00000426839.1:p.Gly248Asn
ENST00000508053.5:c.4192_4193delinsAA	ENSP00000424571.1:p.Gly1398Asn
ENST00000508989.5:c.4093_4094delinsAA	ENSP00000425596.1:p.Gly1365Asn
ENST00000619499.4:c.4189_4190delinsAA	ENSP00000482132.1:p.Gly1397Asn
NM_001999.3:c.4192_4193delinsAA	NP_001990.2:p.Gly1398Asn
XM_017009228.2:c.4039_4040delinsAA	XP_016864717.1:p.Gly1347Asn
NM_001999.4:c.4192_4193delinsAA MANE Select	NP_001990.2:p.Gly1398Asn