Canonical Allele Identifier: CA360750272

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127730815C>G (hg19) ; chr5:g.128395122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395122C>G , CM000667.2:g.128395122C>G	GRCh38
NC_000005.9:g.127730815C>G , CM000667.1:g.127730815C>G	GRCh37
NC_000005.8:g.127758714C>G	NCBI36
NG_008750.1:g.147921G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.938G>C
ENST00000262464.9:c.1231G>C MANE Select	ENSP00000262464.4:p.Glu411Gln
ENST00000262464.8:c.1231G>C	ENSP00000262464.4:p.Glu411Gln
ENST00000508053.5:c.1231G>C	ENSP00000424571.1:p.Glu411Gln
ENST00000508989.5:c.1132G>C	ENSP00000425596.1:p.Glu378Gln
ENST00000619499.4:c.1228G>C	ENSP00000482132.1:p.Glu410Gln
NM_001999.3:c.1231G>C	NP_001990.2:p.Glu411Gln
XM_017009228.2:c.1079-1754G>C	XP_016864717.1:n.1079-1754G>C
NM_001999.4:c.1231G>C MANE Select	NP_001990.2:p.Glu411Gln