Canonical Allele Identifier: CA446309242
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127666341A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330649A>C , CM000667.2:g.128330649A>C GRCh38
NC_000005.9:g.127666341A>C , CM000667.1:g.127666341A>C GRCh37
NC_000005.8:g.127694240A>C NCBI36
NG_008750.1:g.212395T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1053T>G
ENST00000703785.1:n.1134T>G
ENST00000262464.9:c.4269T>G MANE Select ENSP00000262464.4:p.Ala1423=
ENST00000262464.8:c.4269T>G ENSP00000262464.4:p.Ala1423=
ENST00000507835.5:c.819T>G ENSP00000426839.1:p.Ala273=
ENST00000508053.5:c.4269T>G ENSP00000424571.1:p.Ala1423=
ENST00000508989.5:c.4170T>G ENSP00000425596.1:p.Ala1390=
ENST00000619499.4:c.4266T>G ENSP00000482132.1:p.Ala1422=
NM_001999.3:c.4269T>G NP_001990.2:p.Ala1423=
XM_017009228.2:c.4116T>G XP_016864717.1:p.Ala1372=
NM_001999.4:c.4269T>G MANE Select NP_001990.2:p.Ala1423=