Canonical Allele Identifier: CA360767368
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357319A>C , CM000667.2:g.128357319A>C GRCh38
NC_000005.9:g.127693011A>C , CM000667.1:g.127693011A>C GRCh37
NC_000005.8:g.127720910A>C NCBI36
NG_008750.1:g.185725T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2631T>G MANE Select ENSP00000262464.4:p.Cys877Trp
ENST00000262464.8:c.2631T>G ENSP00000262464.4:p.Cys877Trp
ENST00000508053.5:c.2631T>G ENSP00000424571.1:p.Cys877Trp
ENST00000508989.5:c.2532T>G ENSP00000425596.1:p.Cys844Trp
ENST00000619499.4:c.2628T>G ENSP00000482132.1:p.Cys876Trp
NM_001999.3:c.2631T>G NP_001990.2:p.Cys877Trp
XM_017009228.2:c.2478T>G XP_016864717.1:p.Cys826Trp
NM_001999.4:c.2631T>G MANE Select NP_001990.2:p.Cys877Trp