Canonical Allele Identifier: CA360755327

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668700G>T (hg19) ; chr5:g.128333008G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333008G>T , CM000667.2:g.128333008G>T	GRCh38
NC_000005.9:g.127668700G>T , CM000667.1:g.127668700G>T	GRCh37
NC_000005.8:g.127696599G>T	NCBI36
NG_008750.1:g.210036C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.910C>A
ENST00000703785.1:n.991C>A
ENST00000262464.9:c.4126C>A MANE Select	ENSP00000262464.4:p.His1376Asn
ENST00000262464.8:c.4126C>A	ENSP00000262464.4:p.His1376Asn
ENST00000507835.5:c.676C>A	ENSP00000426839.1:p.His226Asn
ENST00000508053.5:c.4126C>A	ENSP00000424571.1:p.His1376Asn
ENST00000508989.5:c.4027C>A	ENSP00000425596.1:p.His1343Asn
ENST00000619499.4:c.4123C>A	ENSP00000482132.1:p.His1375Asn
NM_001999.3:c.4126C>A	NP_001990.2:p.His1376Asn
XM_017009228.2:c.3973C>A	XP_016864717.1:p.His1325Asn
NM_001999.4:c.4126C>A MANE Select	NP_001990.2:p.His1376Asn