Canonical Allele Identifier: CA1581270768

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338131_128338133delinsTAA , CM000667.2:g.128338131_128338133delinsTAA	GRCh38
NC_000005.9:g.127673823_127673825delinsTAA , CM000667.1:g.127673823_127673825delinsTAA	GRCh37
NC_000005.8:g.127701722_127701724delinsTAA	NCBI36
NG_008750.1:g.204911_204913delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-11_257-9delinsTTA
ENST00000703785.1:n.338-11_338-9delinsTTA
ENST00000262464.9:c.3473-11_3473-9delinsTTA MANE Select	ENSP00000262464.4:n.3473-11_3473-9delinsTTA
ENST00000262464.8:c.3473-11_3473-9delinsTTA	ENSP00000262464.4:n.3473-11_3473-9delinsTTA
ENST00000507835.5:c.23-11_23-9delinsTTA	ENSP00000426839.1:n.23-11_23-9delinsTTA
ENST00000508053.5:c.3473-11_3473-9delinsTTA	ENSP00000424571.1:n.3473-11_3473-9delinsTTA
ENST00000508989.5:c.3374-11_3374-9delinsTTA	ENSP00000425596.1:n.3374-11_3374-9delinsTTA
ENST00000619499.4:c.3470-11_3470-9delinsTTA	ENSP00000482132.1:n.3470-11_3470-9delinsTTA
NM_001999.3:c.3473-11_3473-9delinsTTA	NP_001990.2:n.3473-11_3473-9delinsTTA
XM_017009228.2:c.3320-11_3320-9delinsTTA	XP_016864717.1:n.3320-11_3320-9delinsTTA
NM_001999.4:c.3473-11_3473-9delinsTTA MANE Select	NP_001990.2:n.3473-11_3473-9delinsTTA