Canonical Allele Identifier: CA2675114500
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304891T>C , CM000667.2:g.128304891T>C GRCh38
NC_000005.9:g.127640583T>C , CM000667.1:g.127640583T>C GRCh37
NC_000005.8:g.127668482T>C NCBI36
NG_008750.1:g.238153A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2584+66A>G
ENST00000703785.1:n.2503+66A>G
ENST00000262464.9:c.5800+66A>G MANE Select ENSP00000262464.4:n.5800+66A>G
ENST00000262464.8:c.5800+66A>G ENSP00000262464.4:n.5800+66A>G
ENST00000508053.5:c.5800+66A>G ENSP00000424571.1:n.5800+66A>G
ENST00000619499.4:c.5797+66A>G ENSP00000482132.1:n.5797+66A>G
NM_001999.3:c.5800+66A>G NP_001990.2:n.5800+66A>G
XM_017009228.2:c.5647+66A>G XP_016864717.1:n.5647+66A>G
NM_001999.4:c.5800+66A>G MANE Select NP_001990.2:n.5800+66A>G