Canonical Allele Identifier: CA360766216
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300832T>C , CM000667.2:g.128300832T>C GRCh38
NC_000005.9:g.127636524T>C , CM000667.1:g.127636524T>C GRCh37
NC_000005.8:g.127664423T>C NCBI36
NG_008750.1:g.242212A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2935A>G
ENST00000703785.1:n.2854A>G
ENST00000262464.9:c.6151A>G MANE Select ENSP00000262464.4:p.Ser2051Gly
ENST00000262464.8:c.6151A>G ENSP00000262464.4:p.Ser2051Gly
ENST00000508053.5:c.6151A>G ENSP00000424571.1:p.Ser2051Gly
ENST00000619499.4:c.6148A>G ENSP00000482132.1:p.Ser2050Gly
NM_001999.3:c.6151A>G NP_001990.2:p.Ser2051Gly
XM_017009228.2:c.5998A>G XP_016864717.1:p.Ser2000Gly
NM_001999.4:c.6151A>G MANE Select NP_001990.2:p.Ser2051Gly