Canonical Allele Identifier: CA127033564

Gene: FBN2

Linked Data

• dbSNP Id: rs141826099
• gnomAD v3: 5-128393012-A-AAC
• gnomAD v4: 5-128393012-A-AAC
• MyVariant Identifiers: chr5:g.127728705_127728706insAC (hg19) ; chr5:g.128393012_128393013insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393024_128393025dup , CM000667.2:g.128393024_128393025dup	GRCh38
NC_000005.9:g.127728717_127728718dup , CM000667.1:g.127728717_127728718dup	GRCh37
NC_000005.8:g.127756616_127756617dup	NCBI36
NG_008750.1:g.150029_150030dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.1172+121_1172+122dup
ENST00000262464.9:c.1465+121_1465+122dup MANE Select	ENSP00000262464.4:n.1465+121_1465+122dup
ENST00000262464.8:c.1465+121_1465+122dup	ENSP00000262464.4:n.1465+121_1465+122dup
ENST00000508053.5:c.1465+121_1465+122dup	ENSP00000424571.1:n.1465+121_1465+122dup
ENST00000508989.5:c.1366+121_1366+122dup	ENSP00000425596.1:n.1366+121_1366+122dup
ENST00000619499.4:c.1462+121_1462+122dup	ENSP00000482132.1:n.1462+121_1462+122dup
NM_001999.3:c.1465+121_1465+122dup	NP_001990.2:n.1465+121_1465+122dup
XM_017009228.2:c.1312+121_1312+122dup	XP_016864717.1:n.1312+121_1312+122dup
NM_001999.4:c.1465+121_1465+122dup MANE Select	NP_001990.2:n.1465+121_1465+122dup