Canonical Allele Identifier: CA360754129

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330654-T-C
• COSMIC: COSM1060349
• MyVariant Identifiers: chr5:g.127666346T>C (hg19) ; chr5:g.128330654T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330654T>C , CM000667.2:g.128330654T>C	GRCh38
NC_000005.9:g.127666346T>C , CM000667.1:g.127666346T>C	GRCh37
NC_000005.8:g.127694245T>C	NCBI36
NG_008750.1:g.212390A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1048A>G
ENST00000703785.1:n.1129A>G
ENST00000262464.9:c.4264A>G MANE Select	ENSP00000262464.4:p.Asn1422Asp
ENST00000262464.8:c.4264A>G	ENSP00000262464.4:p.Asn1422Asp
ENST00000507835.5:c.814A>G	ENSP00000426839.1:p.Asn272Asp
ENST00000508053.5:c.4264A>G	ENSP00000424571.1:p.Asn1422Asp
ENST00000508989.5:c.4165A>G	ENSP00000425596.1:p.Asn1389Asp
ENST00000619499.4:c.4261A>G	ENSP00000482132.1:p.Asn1421Asp
NM_001999.3:c.4264A>G	NP_001990.2:p.Asn1422Asp
XM_017009228.2:c.4111A>G	XP_016864717.1:p.Asn1371Asp
NM_001999.4:c.4264A>G MANE Select	NP_001990.2:p.Asn1422Asp