Canonical Allele Identifier: CA360750823
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395206T>C , CM000667.2:g.128395206T>C GRCh38
NC_000005.9:g.127730899T>C , CM000667.1:g.127730899T>C GRCh37
NC_000005.8:g.127758798T>C NCBI36
NG_008750.1:g.147837A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.854A>G
ENST00000262464.9:c.1147A>G MANE Select ENSP00000262464.4:p.Met383Val
ENST00000262464.8:c.1147A>G ENSP00000262464.4:p.Met383Val
ENST00000508053.5:c.1147A>G ENSP00000424571.1:p.Met383Val
ENST00000508989.5:c.1048A>G ENSP00000425596.1:p.Met350Val
ENST00000619499.4:c.1144A>G ENSP00000482132.1:p.Met382Val
NM_001999.3:c.1147A>G NP_001990.2:p.Met383Val
XM_017009228.2:c.1079-1838A>G XP_016864717.1:n.1079-1838A>G
NM_001999.4:c.1147A>G MANE Select NP_001990.2:p.Met383Val