Canonical Allele Identifier: CA360740011
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305037A>C , CM000667.2:g.128305037A>C GRCh38
NC_000005.9:g.127640729A>C , CM000667.1:g.127640729A>C GRCh37
NC_000005.8:g.127668628A>C NCBI36
NG_008750.1:g.238007T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2504T>G
ENST00000703785.1:n.2423T>G
ENST00000262464.9:c.5720T>G MANE Select ENSP00000262464.4:p.Leu1907Trp
ENST00000262464.8:c.5720T>G ENSP00000262464.4:p.Leu1907Trp
ENST00000508053.5:c.5720T>G ENSP00000424571.1:p.Leu1907Trp
ENST00000619499.4:c.5717T>G ENSP00000482132.1:p.Leu1906Trp
NM_001999.3:c.5720T>G NP_001990.2:p.Leu1907Trp
XM_017009228.2:c.5567T>G XP_016864717.1:p.Leu1856Trp
NM_001999.4:c.5720T>G MANE Select NP_001990.2:p.Leu1907Trp