Canonical Allele Identifier: CA127021129

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128435112G>C , CM000667.2:g.128435112G>C	GRCh38
NC_000005.9:g.127770805G>C , CM000667.1:g.127770805G>C	GRCh37
NC_000005.8:g.127798704G>C	NCBI36
NG_008750.1:g.107931C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.952+11369C>G MANE Select	NP_001990.2:n.952+11369C>G
ENST00000262464.9:c.952+11369C>G MANE Select	ENSP00000262464.4:n.952+11369C>G
NM_001999.3:c.952+11369C>G	NP_001990.2:n.952+11369C>G
ENST00000262464.8:c.952+11369C>G	ENSP00000262464.4:n.952+11369C>G
ENST00000508053.5:c.952+11369C>G	ENSP00000424571.1:n.952+11369C>G
ENST00000508053.6:c.952+11369C>G	ENSP00000424571.2:n.952+11369C>G
ENST00000508989.5:c.853+11369C>G	ENSP00000425596.1:n.853+11369C>G
ENST00000619499.4:c.949+11369C>G	ENSP00000482132.1:n.949+11369C>G
ENST00000703787.1:n.659+11369C>G
XM_017009228.2:c.952+11369C>G	XP_016864717.1:n.952+11369C>G