Canonical Allele Identifier: CA360747026
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261745A>C , CM000667.2:g.128261745A>C GRCh38
NC_000005.9:g.127597437A>C , CM000667.1:g.127597437A>C GRCh37
NC_000005.8:g.127625336A>C NCBI36
NG_008750.1:g.281299T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.8355T>G MANE Select ENSP00000262464.4:p.Asp2785Glu
ENST00000262464.8:c.8355T>G ENSP00000262464.4:p.Asp2785Glu
ENST00000508053.5:c.8355T>G ENSP00000424571.1:p.Asp2785Glu
ENST00000619499.4:c.8352T>G ENSP00000482132.1:p.Asp2784Glu
NM_001999.3:c.8355T>G NP_001990.2:p.Asp2785Glu
XM_017009228.2:c.8202T>G XP_016864717.1:p.Asp2734Glu
NM_001999.4:c.8355T>G MANE Select NP_001990.2:p.Asp2785Glu