Canonical Allele Identifier: CA360750708

Gene: FBN2

Linked Data

• COSMIC: COSM6101588 ; COSM6101589
• MyVariant Identifiers: chr5:g.127730885C>A (hg19) ; chr5:g.128395192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395192C>A , CM000667.2:g.128395192C>A	GRCh38
NC_000005.9:g.127730885C>A , CM000667.1:g.127730885C>A	GRCh37
NC_000005.8:g.127758784C>A	NCBI36
NG_008750.1:g.147851G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.868G>T
ENST00000262464.9:c.1161G>T MANE Select	ENSP00000262464.4:p.Gln387His
ENST00000262464.8:c.1161G>T	ENSP00000262464.4:p.Gln387His
ENST00000508053.5:c.1161G>T	ENSP00000424571.1:p.Gln387His
ENST00000508989.5:c.1062G>T	ENSP00000425596.1:p.Gln354His
ENST00000619499.4:c.1158G>T	ENSP00000482132.1:p.Gln386His
NM_001999.3:c.1161G>T	NP_001990.2:p.Gln387His
XM_017009228.2:c.1079-1824G>T	XP_016864717.1:n.1079-1824G>T
NM_001999.4:c.1161G>T MANE Select	NP_001990.2:p.Gln387His