Canonical Allele Identifier: CA360759280
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1750892586

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338033C>T , CM000667.2:g.128338033C>T GRCh38
NC_000005.9:g.127673725C>T , CM000667.1:g.127673725C>T GRCh37
NC_000005.8:g.127701624C>T NCBI36
NG_008750.1:g.205011G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.346G>A
ENST00000703785.1:n.427G>A
ENST00000262464.9:c.3562G>A MANE Select ENSP00000262464.4:p.Gly1188Arg
ENST00000262464.8:c.3562G>A ENSP00000262464.4:p.Gly1188Arg
ENST00000507835.5:c.112G>A ENSP00000426839.1:p.Gly38Arg
ENST00000508053.5:c.3562G>A ENSP00000424571.1:p.Gly1188Arg
ENST00000508989.5:c.3463G>A ENSP00000425596.1:p.Gly1155Arg
ENST00000619499.4:c.3559G>A ENSP00000482132.1:p.Gly1187Arg
NM_001999.3:c.3562G>A NP_001990.2:p.Gly1188Arg
XM_017009228.2:c.3409G>A XP_016864717.1:p.Gly1137Arg
NM_001999.4:c.3562G>A MANE Select NP_001990.2:p.Gly1188Arg