Canonical Allele Identifier: CA126995146

Gene: FBN2

Linked Data

• dbSNP Id: rs34782164

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317445_128317446delinsTG , CM000667.2:g.128317445_128317446delinsTG	GRCh38
NC_000005.9:g.127653137_127653138delinsTG , CM000667.1:g.127653137_127653138delinsTG	GRCh37
NC_000005.8:g.127681036_127681037delinsTG	NCBI36
NG_008750.1:g.225598_225599delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1501+703_1501+704delinsCA
ENST00000703785.1:n.1582+703_1582+704delinsCA
ENST00000262464.9:c.4717+703_4717+704delinsCA MANE Select	ENSP00000262464.4:n.4717+703_4717+704delinsCA
ENST00000262464.8:c.4717+703_4717+704delinsCA	ENSP00000262464.4:n.4717+703_4717+704delinsCA
ENST00000508053.5:c.4717+703_4717+704delinsCA	ENSP00000424571.1:n.4717+703_4717+704delinsCA
ENST00000619499.4:c.4714+703_4714+704delinsCA	ENSP00000482132.1:n.4714+703_4714+704delinsCA
NM_001999.3:c.4717+703_4717+704delinsCA	NP_001990.2:n.4717+703_4717+704delinsCA
XM_017009228.2:c.4564+703_4564+704delinsCA	XP_016864717.1:n.4564+703_4564+704delinsCA
NM_001999.4:c.4717+703_4717+704delinsCA MANE Select	NP_001990.2:n.4717+703_4717+704delinsCA