Canonical Allele Identifier: CA3395797

Gene: FBN2

Linked Data

• dbSNP Id: rs774800100
• ExAC: 5:127728788 G / A
• gnomAD v2: 5-127728788-G-A
• gnomAD v3: 5-128393095-G-A
• gnomAD v4: 5-128393095-G-A
• MyVariant Identifiers: chr5:g.127728788G>A (hg19) ; chr5:g.128393095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393095G>A , CM000667.2:g.128393095G>A	GRCh38
NC_000005.9:g.127728788G>A , CM000667.1:g.127728788G>A	GRCh37
NC_000005.8:g.127756687G>A	NCBI36
NG_008750.1:g.149948C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.1172+40C>T
ENST00000262464.9:c.1465+40C>T MANE Select	ENSP00000262464.4:n.1465+40C>T
ENST00000262464.8:c.1465+40C>T	ENSP00000262464.4:n.1465+40C>T
ENST00000508053.5:c.1465+40C>T	ENSP00000424571.1:n.1465+40C>T
ENST00000508989.5:c.1366+40C>T	ENSP00000425596.1:n.1366+40C>T
ENST00000619499.4:c.1462+40C>T	ENSP00000482132.1:n.1462+40C>T
NM_001999.3:c.1465+40C>T	NP_001990.2:n.1465+40C>T
XM_017009228.2:c.1312+40C>T	XP_016864717.1:n.1312+40C>T
NM_001999.4:c.1465+40C>T MANE Select	NP_001990.2:n.1465+40C>T