Canonical Allele Identifier: CA1581268366

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332889_128332890delinsGA , CM000667.2:g.128332889_128332890delinsGA	GRCh38
NC_000005.9:g.127668581_127668582delinsGA , CM000667.1:g.127668581_127668582delinsGA	GRCh37
NC_000005.8:g.127696480_127696481delinsGA	NCBI36
NG_008750.1:g.210154_210155delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+22_1006+23delinsTC
ENST00000703785.1:n.1087+22_1087+23delinsTC
ENST00000262464.9:c.4222+22_4222+23delinsTC MANE Select	ENSP00000262464.4:n.4222+22_4222+23delinsTC
ENST00000262464.8:c.4222+22_4222+23delinsTC	ENSP00000262464.4:n.4222+22_4222+23delinsTC
ENST00000507835.5:c.772+22_772+23delinsTC	ENSP00000426839.1:n.772+22_772+23delinsTC
ENST00000508053.5:c.4222+22_4222+23delinsTC	ENSP00000424571.1:n.4222+22_4222+23delinsTC
ENST00000508989.5:c.4123+22_4123+23delinsTC	ENSP00000425596.1:n.4123+22_4123+23delinsTC
ENST00000619499.4:c.4219+22_4219+23delinsTC	ENSP00000482132.1:n.4219+22_4219+23delinsTC
NM_001999.3:c.4222+22_4222+23delinsTC	NP_001990.2:n.4222+22_4222+23delinsTC
XM_017009228.2:c.4069+22_4069+23delinsTC	XP_016864717.1:n.4069+22_4069+23delinsTC
NM_001999.4:c.4222+22_4222+23delinsTC MANE Select	NP_001990.2:n.4222+22_4222+23delinsTC