Canonical Allele Identifier: CA360767362
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357317G>C , CM000667.2:g.128357317G>C GRCh38
NC_000005.9:g.127693009G>C , CM000667.1:g.127693009G>C GRCh37
NC_000005.8:g.127720908G>C NCBI36
NG_008750.1:g.185727C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2633C>G MANE Select ENSP00000262464.4:p.Ser878Trp
ENST00000262464.8:c.2633C>G ENSP00000262464.4:p.Ser878Trp
ENST00000508053.5:c.2633C>G ENSP00000424571.1:p.Ser878Trp
ENST00000508989.5:c.2534C>G ENSP00000425596.1:p.Ser845Trp
ENST00000619499.4:c.2630C>G ENSP00000482132.1:p.Ser877Trp
NM_001999.3:c.2633C>G NP_001990.2:p.Ser878Trp
XM_017009228.2:c.2480C>G XP_016864717.1:p.Ser827Trp
NM_001999.4:c.2633C>G MANE Select NP_001990.2:p.Ser878Trp