Canonical Allele Identifier: CA127033598

Gene: FBN2

Linked Data

• dbSNP Id: rs546933326
• gnomAD v2: 5-127728734-A-G
• gnomAD v3: 5-128393041-A-G
• gnomAD v4: 5-128393041-A-G
• MyVariant Identifiers: chr5:g.127728734A>G (hg19) ; chr5:g.128393041A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128393041A>G , CM000667.2:g.128393041A>G	GRCh38
NC_000005.9:g.127728734A>G , CM000667.1:g.127728734A>G	GRCh37
NC_000005.8:g.127756633A>G	NCBI36
NG_008750.1:g.150002T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.1172+94T>C
ENST00000262464.9:c.1465+94T>C MANE Select	ENSP00000262464.4:n.1465+94T>C
ENST00000262464.8:c.1465+94T>C	ENSP00000262464.4:n.1465+94T>C
ENST00000508053.5:c.1465+94T>C	ENSP00000424571.1:n.1465+94T>C
ENST00000508989.5:c.1366+94T>C	ENSP00000425596.1:n.1366+94T>C
ENST00000619499.4:c.1462+94T>C	ENSP00000482132.1:n.1462+94T>C
NM_001999.3:c.1465+94T>C	NP_001990.2:n.1465+94T>C
XM_017009228.2:c.1312+94T>C	XP_016864717.1:n.1312+94T>C
NM_001999.4:c.1465+94T>C MANE Select	NP_001990.2:n.1465+94T>C