Canonical Allele Identifier: CA360766486
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300889A>C , CM000667.2:g.128300889A>C GRCh38
NC_000005.9:g.127636581A>C , CM000667.1:g.127636581A>C GRCh37
NC_000005.8:g.127664480A>C NCBI36
NG_008750.1:g.242155T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2878T>G
ENST00000703785.1:n.2797T>G
ENST00000262464.9:c.6094T>G MANE Select ENSP00000262464.4:p.Cys2032Gly
ENST00000262464.8:c.6094T>G ENSP00000262464.4:p.Cys2032Gly
ENST00000508053.5:c.6094T>G ENSP00000424571.1:p.Cys2032Gly
ENST00000619499.4:c.6091T>G ENSP00000482132.1:p.Cys2031Gly
NM_001999.3:c.6094T>G NP_001990.2:p.Cys2032Gly
XM_017009228.2:c.5941T>G XP_016864717.1:p.Cys1981Gly
NM_001999.4:c.6094T>G MANE Select NP_001990.2:p.Cys2032Gly