Canonical Allele Identifier: CA562702388

Gene: FBN2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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