Canonical Allele Identifier: CA2768337333
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395110C>G , CM000667.2:g.128395110C>G GRCh38
NC_000005.9:g.127730803C>G , CM000667.1:g.127730803C>G GRCh37
NC_000005.8:g.127758702C>G NCBI36
NG_008750.1:g.147933G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.938+12G>C
ENST00000262464.9:c.1231+12G>C MANE Select ENSP00000262464.4:n.1231+12G>C
ENST00000262464.8:c.1231+12G>C ENSP00000262464.4:n.1231+12G>C
ENST00000508053.5:c.1231+12G>C ENSP00000424571.1:n.1231+12G>C
ENST00000508989.5:c.1132+12G>C ENSP00000425596.1:n.1132+12G>C
ENST00000619499.4:c.1228+12G>C ENSP00000482132.1:n.1228+12G>C
NM_001999.3:c.1231+12G>C NP_001990.2:n.1231+12G>C
XM_017009228.2:c.1079-1742G>C XP_016864717.1:n.1079-1742G>C
NM_001999.4:c.1231+12G>C MANE Select NP_001990.2:n.1231+12G>C
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