Canonical Allele Identifier: CA360753918
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330603C>T , CM000667.2:g.128330603C>T GRCh38
NC_000005.9:g.127666295C>T , CM000667.1:g.127666295C>T GRCh37
NC_000005.8:g.127694194C>T NCBI36
NG_008750.1:g.212441G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1099G>A
ENST00000703785.1:n.1180G>A
ENST00000262464.9:c.4315G>A MANE Select ENSP00000262464.4:p.Gly1439Ser
ENST00000262464.8:c.4315G>A ENSP00000262464.4:p.Gly1439Ser
ENST00000507835.5:c.865G>A ENSP00000426839.1:p.Gly289Ser
ENST00000508053.5:c.4315G>A ENSP00000424571.1:p.Gly1439Ser
ENST00000508989.5:c.4216G>A ENSP00000425596.1:p.Gly1406Ser
ENST00000619499.4:c.4312G>A ENSP00000482132.1:p.Gly1438Ser
NM_001999.3:c.4315G>A NP_001990.2:p.Gly1439Ser
XM_017009228.2:c.4162G>A XP_016864717.1:p.Gly1388Ser
NM_001999.4:c.4315G>A MANE Select NP_001990.2:p.Gly1439Ser