Canonical Allele Identifier: CA360757546

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2172294
• ClinVar RCV Id: RCV003087351
• dbSNP Id: rs1452522411
• gnomAD v2: 5-127670969-T-C
• MyVariant Identifiers: chr5:g.127670969T>C (hg19) ; chr5:g.128335277T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335277T>C , CM000667.2:g.128335277T>C	GRCh38
NC_000005.9:g.127670969T>C , CM000667.1:g.127670969T>C	GRCh37
NC_000005.8:g.127698868T>C	NCBI36
NG_008750.1:g.207767A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.650A>G
ENST00000703785.1:n.731A>G
ENST00000262464.9:c.3866A>G MANE Select	ENSP00000262464.4:p.Asn1289Ser
ENST00000262464.8:c.3866A>G	ENSP00000262464.4:p.Asn1289Ser
ENST00000507835.5:c.416A>G	ENSP00000426839.1:p.Asn139Ser
ENST00000508053.5:c.3866A>G	ENSP00000424571.1:p.Asn1289Ser
ENST00000508989.5:c.3767A>G	ENSP00000425596.1:p.Asn1256Ser
ENST00000619499.4:c.3863A>G	ENSP00000482132.1:p.Asn1288Ser
NM_001999.3:c.3866A>G	NP_001990.2:p.Asn1289Ser
XM_017009228.2:c.3713A>G	XP_016864717.1:p.Asn1238Ser
NM_001999.4:c.3866A>G MANE Select	NP_001990.2:p.Asn1289Ser