Canonical Allele Identifier: CA360755188

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668683A>C (hg19) ; chr5:g.128332991A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332991A>C , CM000667.2:g.128332991A>C	GRCh38
NC_000005.9:g.127668683A>C , CM000667.1:g.127668683A>C	GRCh37
NC_000005.8:g.127696582A>C	NCBI36
NG_008750.1:g.210053T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.927T>G
ENST00000703785.1:n.1008T>G
ENST00000262464.9:c.4143T>G MANE Select	ENSP00000262464.4:p.His1381Gln
ENST00000262464.8:c.4143T>G	ENSP00000262464.4:p.His1381Gln
ENST00000507835.5:c.693T>G	ENSP00000426839.1:p.His231Gln
ENST00000508053.5:c.4143T>G	ENSP00000424571.1:p.His1381Gln
ENST00000508989.5:c.4044T>G	ENSP00000425596.1:p.His1348Gln
ENST00000619499.4:c.4140T>G	ENSP00000482132.1:p.His1380Gln
NM_001999.3:c.4143T>G	NP_001990.2:p.His1381Gln
XM_017009228.2:c.3990T>G	XP_016864717.1:p.His1330Gln
NM_001999.4:c.4143T>G MANE Select	NP_001990.2:p.His1381Gln