Canonical Allele Identifier: CA1581261159

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317407_128317410delinsCAAA , CM000667.2:g.128317407_128317410delinsCAAA	GRCh38
NC_000005.9:g.127653099_127653102delinsCAAA , CM000667.1:g.127653099_127653102delinsCAAA	GRCh37
NC_000005.8:g.127680998_127681001delinsCAAA	NCBI36
NG_008750.1:g.225634_225637delinsTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1501+739_1501+742delinsTTTG
ENST00000703785.1:n.1582+739_1582+742delinsTTTG
ENST00000262464.9:c.4717+739_4717+742delinsTTTG MANE Select	ENSP00000262464.4:n.4717+739_4717+742delinsTTTG
ENST00000262464.8:c.4717+739_4717+742delinsTTTG	ENSP00000262464.4:n.4717+739_4717+742delinsTTTG
ENST00000508053.5:c.4717+739_4717+742delinsTTTG	ENSP00000424571.1:n.4717+739_4717+742delinsTTTG
ENST00000619499.4:c.4714+739_4714+742delinsTTTG	ENSP00000482132.1:n.4714+739_4714+742delinsTTTG
NM_001999.3:c.4717+739_4717+742delinsTTTG	NP_001990.2:n.4717+739_4717+742delinsTTTG
XM_017009228.2:c.4564+739_4564+742delinsTTTG	XP_016864717.1:n.4564+739_4564+742delinsTTTG
NM_001999.4:c.4717+739_4717+742delinsTTTG MANE Select	NP_001990.2:n.4717+739_4717+742delinsTTTG