Canonical Allele Identifier: CA360766615
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300930T>G , CM000667.2:g.128300930T>G GRCh38
NC_000005.9:g.127636622T>G , CM000667.1:g.127636622T>G GRCh37
NC_000005.8:g.127664521T>G NCBI36
NG_008750.1:g.242114A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2837A>C
ENST00000703785.1:n.2756A>C
ENST00000262464.9:c.6053A>C MANE Select ENSP00000262464.4:p.Asn2018Thr
ENST00000262464.8:c.6053A>C ENSP00000262464.4:p.Asn2018Thr
ENST00000508053.5:c.6053A>C ENSP00000424571.1:p.Asn2018Thr
ENST00000619499.4:c.6050A>C ENSP00000482132.1:p.Asn2017Thr
NM_001999.3:c.6053A>C NP_001990.2:p.Asn2018Thr
XM_017009228.2:c.5900A>C XP_016864717.1:p.Asn1967Thr
NM_001999.4:c.6053A>C MANE Select NP_001990.2:p.Asn2018Thr