Canonical Allele Identifier: CA2578395900
Gene: FBN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128301012A>C , CM000667.2:g.128301012A>C GRCh38
NC_000005.9:g.127636704A>C , CM000667.1:g.127636704A>C GRCh37
NC_000005.8:g.127664603A>C NCBI36
NG_008750.1:g.242032T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2831-76T>G
ENST00000703785.1:n.2750-76T>G
ENST00000262464.9:c.6047-76T>G MANE Select ENSP00000262464.4:n.6047-76T>G
ENST00000262464.8:c.6047-76T>G ENSP00000262464.4:n.6047-76T>G
ENST00000508053.5:c.6047-76T>G ENSP00000424571.1:n.6047-76T>G
ENST00000619499.4:c.6044-76T>G ENSP00000482132.1:n.6044-76T>G
NM_001999.3:c.6047-76T>G NP_001990.2:n.6047-76T>G
XM_017009228.2:c.5894-76T>G XP_016864717.1:n.5894-76T>G
NM_001999.4:c.6047-76T>G MANE Select NP_001990.2:n.6047-76T>G