Canonical Allele Identifier: CA446309549

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668722C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333030C>G , CM000667.2:g.128333030C>G	GRCh38
NC_000005.9:g.127668722C>G , CM000667.1:g.127668722C>G	GRCh37
NC_000005.8:g.127696621C>G	NCBI36
NG_008750.1:g.210014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.888G>C
ENST00000703785.1:n.969G>C
ENST00000262464.9:c.4104G>C MANE Select	ENSP00000262464.4:p.Val1368=
ENST00000262464.8:c.4104G>C	ENSP00000262464.4:p.Val1368=
ENST00000507835.5:c.654G>C	ENSP00000426839.1:p.Val218=
ENST00000508053.5:c.4104G>C	ENSP00000424571.1:p.Val1368=
ENST00000508989.5:c.4005G>C	ENSP00000425596.1:p.Val1335=
ENST00000619499.4:c.4101G>C	ENSP00000482132.1:p.Val1367=
NM_001999.3:c.4104G>C	NP_001990.2:p.Val1368=
XM_017009228.2:c.3951G>C	XP_016864717.1:p.Val1317=
NM_001999.4:c.4104G>C MANE Select	NP_001990.2:p.Val1368=