Canonical Allele Identifier: CA360754159

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666359G>C (hg19) ; chr5:g.128330667G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330667G>C , CM000667.2:g.128330667G>C	GRCh38
NC_000005.9:g.127666359G>C , CM000667.1:g.127666359G>C	GRCh37
NC_000005.8:g.127694258G>C	NCBI36
NG_008750.1:g.212377C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1035C>G
ENST00000703785.1:n.1116C>G
ENST00000262464.9:c.4251C>G MANE Select	ENSP00000262464.4:p.His1417Gln
ENST00000262464.8:c.4251C>G	ENSP00000262464.4:p.His1417Gln
ENST00000507835.5:c.801C>G	ENSP00000426839.1:p.His267Gln
ENST00000508053.5:c.4251C>G	ENSP00000424571.1:p.His1417Gln
ENST00000508989.5:c.4152C>G	ENSP00000425596.1:p.His1384Gln
ENST00000619499.4:c.4248C>G	ENSP00000482132.1:p.His1416Gln
NM_001999.3:c.4251C>G	NP_001990.2:p.His1417Gln
XM_017009228.2:c.4098C>G	XP_016864717.1:p.His1366Gln
NM_001999.4:c.4251C>G MANE Select	NP_001990.2:p.His1417Gln