Canonical Allele Identifier: CA360759463
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338086C>A , CM000667.2:g.128338086C>A GRCh38
NC_000005.9:g.127673778C>A , CM000667.1:g.127673778C>A GRCh37
NC_000005.8:g.127701677C>A NCBI36
NG_008750.1:g.204958G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.293G>T
ENST00000703785.1:n.374G>T
ENST00000262464.9:c.3509G>T MANE Select ENSP00000262464.4:p.Arg1170Met
ENST00000262464.8:c.3509G>T ENSP00000262464.4:p.Arg1170Met
ENST00000507835.5:c.59G>T ENSP00000426839.1:p.Arg20Met
ENST00000508053.5:c.3509G>T ENSP00000424571.1:p.Arg1170Met
ENST00000508989.5:c.3410G>T ENSP00000425596.1:p.Arg1137Met
ENST00000619499.4:c.3506G>T ENSP00000482132.1:p.Arg1169Met
NM_001999.3:c.3509G>T NP_001990.2:p.Arg1170Met
XM_017009228.2:c.3356G>T XP_016864717.1:p.Arg1119Met
NM_001999.4:c.3509G>T MANE Select NP_001990.2:p.Arg1170Met