Canonical Allele Identifier: CA360761699

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127680092C>T (hg19) ; chr5:g.128344400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344400C>T , CM000667.2:g.128344400C>T	GRCh38
NC_000005.9:g.127680092C>T , CM000667.1:g.127680092C>T	GRCh37
NC_000005.8:g.127707991C>T	NCBI36
NG_008750.1:g.198644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.3328G>A MANE Select	ENSP00000262464.4:p.Glu1110Lys
ENST00000262464.8:c.3328G>A	ENSP00000262464.4:p.Glu1110Lys
ENST00000508053.5:c.3328G>A	ENSP00000424571.1:p.Glu1110Lys
ENST00000508989.5:c.3229G>A	ENSP00000425596.1:p.Glu1077Lys
ENST00000619499.4:c.3325G>A	ENSP00000482132.1:p.Glu1109Lys
NM_001999.3:c.3328G>A	NP_001990.2:p.Glu1110Lys
XM_017009228.2:c.3175G>A	XP_016864717.1:p.Glu1059Lys
NM_001999.4:c.3328G>A MANE Select	NP_001990.2:p.Glu1110Lys