Canonical Allele Identifier: CA360757540
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335276G>C , CM000667.2:g.128335276G>C GRCh38
NC_000005.9:g.127670968G>C , CM000667.1:g.127670968G>C GRCh37
NC_000005.8:g.127698867G>C NCBI36
NG_008750.1:g.207768C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.651C>G
ENST00000703785.1:n.732C>G
ENST00000262464.9:c.3867C>G MANE Select ENSP00000262464.4:p.Asn1289Lys
ENST00000262464.8:c.3867C>G ENSP00000262464.4:p.Asn1289Lys
ENST00000507835.5:c.417C>G ENSP00000426839.1:p.Asn139Lys
ENST00000508053.5:c.3867C>G ENSP00000424571.1:p.Asn1289Lys
ENST00000508989.5:c.3768C>G ENSP00000425596.1:p.Asn1256Lys
ENST00000619499.4:c.3864C>G ENSP00000482132.1:p.Asn1288Lys
NM_001999.3:c.3867C>G NP_001990.2:p.Asn1289Lys
XM_017009228.2:c.3714C>G XP_016864717.1:p.Asn1238Lys
NM_001999.4:c.3867C>G MANE Select NP_001990.2:p.Asn1289Lys