Canonical Allele Identifier: CA360755056

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1805899
• ClinVar RCV Id: RCV002470183
• gnomAD v4: 5-128332977-T-G
• MyVariant Identifiers: chr5:g.127668669T>G (hg19) ; chr5:g.128332977T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332977T>G , CM000667.2:g.128332977T>G	GRCh38
NC_000005.9:g.127668669T>G , CM000667.1:g.127668669T>G	GRCh37
NC_000005.8:g.127696568T>G	NCBI36
NG_008750.1:g.210067A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.941A>C
ENST00000703785.1:n.1022A>C
ENST00000262464.9:c.4157A>C MANE Select	ENSP00000262464.4:p.Asn1386Thr
ENST00000262464.8:c.4157A>C	ENSP00000262464.4:p.Asn1386Thr
ENST00000507835.5:c.707A>C	ENSP00000426839.1:p.Asn236Thr
ENST00000508053.5:c.4157A>C	ENSP00000424571.1:p.Asn1386Thr
ENST00000508989.5:c.4058A>C	ENSP00000425596.1:p.Asn1353Thr
ENST00000619499.4:c.4154A>C	ENSP00000482132.1:p.Asn1385Thr
NM_001999.3:c.4157A>C	NP_001990.2:p.Asn1386Thr
XM_017009228.2:c.4004A>C	XP_016864717.1:p.Asn1335Thr
NM_001999.4:c.4157A>C MANE Select	NP_001990.2:p.Asn1386Thr