Canonical Allele Identifier: CA360767380
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357324C>G , CM000667.2:g.128357324C>G GRCh38
NC_000005.9:g.127693016C>G , CM000667.1:g.127693016C>G GRCh37
NC_000005.8:g.127720915C>G NCBI36
NG_008750.1:g.185720G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2626G>C MANE Select ENSP00000262464.4:p.Glu876Gln
ENST00000262464.8:c.2626G>C ENSP00000262464.4:p.Glu876Gln
ENST00000508053.5:c.2626G>C ENSP00000424571.1:p.Glu876Gln
ENST00000508989.5:c.2527G>C ENSP00000425596.1:p.Glu843Gln
ENST00000619499.4:c.2623G>C ENSP00000482132.1:p.Glu875Gln
NM_001999.3:c.2626G>C NP_001990.2:p.Glu876Gln
XM_017009228.2:c.2473G>C XP_016864717.1:p.Glu825Gln
NM_001999.4:c.2626G>C MANE Select NP_001990.2:p.Glu876Gln