Canonical Allele Identifier: CA360757934

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671167G>T (hg19) ; chr5:g.128335475G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335475G>T , CM000667.2:g.128335475G>T	GRCh38
NC_000005.9:g.127671167G>T , CM000667.1:g.127671167G>T	GRCh37
NC_000005.8:g.127699066G>T	NCBI36
NG_008750.1:g.207569C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.611C>A
ENST00000703785.1:n.692C>A
ENST00000262464.9:c.3827C>A MANE Select	ENSP00000262464.4:p.Pro1276Gln
ENST00000262464.8:c.3827C>A	ENSP00000262464.4:p.Pro1276Gln
ENST00000507835.5:c.377C>A	ENSP00000426839.1:p.Pro126Gln
ENST00000508053.5:c.3827C>A	ENSP00000424571.1:p.Pro1276Gln
ENST00000508989.5:c.3728C>A	ENSP00000425596.1:p.Pro1243Gln
ENST00000619499.4:c.3824C>A	ENSP00000482132.1:p.Pro1275Gln
NM_001999.3:c.3827C>A	NP_001990.2:p.Pro1276Gln
XM_017009228.2:c.3674C>A	XP_016864717.1:p.Pro1225Gln
NM_001999.4:c.3827C>A MANE Select	NP_001990.2:p.Pro1276Gln