Canonical Allele Identifier: CA2578395893
Gene: FBN2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300808_128300809dup , CM000667.2:g.128300808_128300809dup GRCh38
NC_000005.9:g.127636500_127636501dup , CM000667.1:g.127636500_127636501dup GRCh37
NC_000005.8:g.127664399_127664400dup NCBI36
NG_008750.1:g.242235_242236dup

Transcript Alleles

HGVS Amino-acid change
ENST00000703783.1:n.2950+8_2950+9dup
ENST00000703785.1:n.2869+8_2869+9dup
ENST00000262464.9:c.6166+8_6166+9dup MANE Select ENSP00000262464.4:n.6166+8_6166+9dup
ENST00000262464.8:c.6166+8_6166+9dup ENSP00000262464.4:n.6166+8_6166+9dup
ENST00000508053.5:c.6166+8_6166+9dup ENSP00000424571.1:n.6166+8_6166+9dup
ENST00000619499.4:c.6163+8_6163+9dup ENSP00000482132.1:n.6163+8_6163+9dup
NM_001999.3:c.6166+8_6166+9dup NP_001990.2:n.6166+8_6166+9dup
XM_017009228.2:c.6013+8_6013+9dup XP_016864717.1:n.6013+8_6013+9dup
NM_001999.4:c.6166+8_6166+9dup MANE Select NP_001990.2:n.6166+8_6166+9dup
Search 100 bp 5'
Search 100 bp 3'