Canonical Allele Identifier: CA446306058

Gene: FBN2

Linked Data

• gnomAD v4: 5-128395113-G-A
• COSMIC: COSM1619404 ; COSM1619405
• MyVariant Identifiers: chr5:g.127730806G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395113G>A , CM000667.2:g.128395113G>A	GRCh38
NC_000005.9:g.127730806G>A , CM000667.1:g.127730806G>A	GRCh37
NC_000005.8:g.127758705G>A	NCBI36
NG_008750.1:g.147930C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.938+9C>T
ENST00000262464.9:c.1231+9C>T MANE Select	ENSP00000262464.4:n.1231+9C>T
ENST00000262464.8:c.1231+9C>T	ENSP00000262464.4:n.1231+9C>T
ENST00000508053.5:c.1231+9C>T	ENSP00000424571.1:n.1231+9C>T
ENST00000508989.5:c.1132+9C>T	ENSP00000425596.1:n.1132+9C>T
ENST00000619499.4:c.1228+9C>T	ENSP00000482132.1:n.1228+9C>T
NM_001999.3:c.1231+9C>T	NP_001990.2:n.1231+9C>T
XM_017009228.2:c.1079-1745C>T	XP_016864717.1:n.1079-1745C>T
NM_001999.4:c.1231+9C>T MANE Select	NP_001990.2:n.1231+9C>T