Canonical Allele Identifier: CA562702386

Gene: FBN2

Linked Data

• dbSNP Id: rs1437488009
• gnomAD v2: 5-127728779-T-A
• gnomAD v4: 5-128393086-T-A
• MyVariant Identifiers: chr5:g.127728779T>A (hg19) ; chr5:g.128393086T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393086T>A , CM000667.2:g.128393086T>A	GRCh38
NC_000005.9:g.127728779T>A , CM000667.1:g.127728779T>A	GRCh37
NC_000005.8:g.127756678T>A	NCBI36
NG_008750.1:g.149957A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.1172+49A>T
ENST00000262464.9:c.1465+49A>T MANE Select	ENSP00000262464.4:n.1465+49A>T
ENST00000262464.8:c.1465+49A>T	ENSP00000262464.4:n.1465+49A>T
ENST00000508053.5:c.1465+49A>T	ENSP00000424571.1:n.1465+49A>T
ENST00000508989.5:c.1366+49A>T	ENSP00000425596.1:n.1366+49A>T
ENST00000619499.4:c.1462+49A>T	ENSP00000482132.1:n.1462+49A>T
NM_001999.3:c.1465+49A>T	NP_001990.2:n.1465+49A>T
XM_017009228.2:c.1312+49A>T	XP_016864717.1:n.1312+49A>T
NM_001999.4:c.1465+49A>T MANE Select	NP_001990.2:n.1465+49A>T