Canonical Allele Identifier: CA1581253540

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301013_128301014delinsTA , CM000667.2:g.128301013_128301014delinsTA	GRCh38
NC_000005.9:g.127636705_127636706delinsTA , CM000667.1:g.127636705_127636706delinsTA	GRCh37
NC_000005.8:g.127664604_127664605delinsTA	NCBI36
NG_008750.1:g.242030_242031delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2831-78_2831-77delinsTA
ENST00000703785.1:n.2750-78_2750-77delinsTA
ENST00000262464.9:c.6047-78_6047-77delinsTA MANE Select	ENSP00000262464.4:n.6047-78_6047-77delinsTA
ENST00000262464.8:c.6047-78_6047-77delinsTA	ENSP00000262464.4:n.6047-78_6047-77delinsTA
ENST00000508053.5:c.6047-78_6047-77delinsTA	ENSP00000424571.1:n.6047-78_6047-77delinsTA
ENST00000619499.4:c.6044-78_6044-77delinsTA	ENSP00000482132.1:n.6044-78_6044-77delinsTA
NM_001999.3:c.6047-78_6047-77delinsTA	NP_001990.2:n.6047-78_6047-77delinsTA
XM_017009228.2:c.5894-78_5894-77delinsTA	XP_016864717.1:n.5894-78_5894-77delinsTA
NM_001999.4:c.6047-78_6047-77delinsTA MANE Select	NP_001990.2:n.6047-78_6047-77delinsTA