Canonical Allele Identifier: CA1581234756
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261655C= , CM000667.2:g.128261655C= GRCh38
NC_000005.9:g.127597347C= , CM000667.1:g.127597347C= GRCh37
NC_000005.8:g.127625246C= NCBI36
NG_008750.1:g.281389G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.8364+81G= MANE Select ENSP00000262464.4:n.8364+81G=
ENST00000262464.8:c.8364+81G= ENSP00000262464.4:n.8364+81G=
ENST00000508053.5:c.8364+81G= ENSP00000424571.1:n.8364+81G=
ENST00000619499.4:c.8361+81G= ENSP00000482132.1:n.8361+81G=
NM_001999.3:c.8364+81G= NP_001990.2:n.8364+81G=
XM_017009228.2:c.8211+81G= XP_016864717.1:n.8211+81G=
NM_001999.4:c.8364+81G= MANE Select NP_001990.2:n.8364+81G=