Canonical Allele Identifier: CA360755068
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128332978T>C , CM000667.2:g.128332978T>C GRCh38
NC_000005.9:g.127668670T>C , CM000667.1:g.127668670T>C GRCh37
NC_000005.8:g.127696569T>C NCBI36
NG_008750.1:g.210066A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.940A>G
ENST00000703785.1:n.1021A>G
ENST00000262464.9:c.4156A>G MANE Select ENSP00000262464.4:p.Asn1386Asp
ENST00000262464.8:c.4156A>G ENSP00000262464.4:p.Asn1386Asp
ENST00000507835.5:c.706A>G ENSP00000426839.1:p.Asn236Asp
ENST00000508053.5:c.4156A>G ENSP00000424571.1:p.Asn1386Asp
ENST00000508989.5:c.4057A>G ENSP00000425596.1:p.Asn1353Asp
ENST00000619499.4:c.4153A>G ENSP00000482132.1:p.Asn1385Asp
NM_001999.3:c.4156A>G NP_001990.2:p.Asn1386Asp
XM_017009228.2:c.4003A>G XP_016864717.1:p.Asn1335Asp
NM_001999.4:c.4156A>G MANE Select NP_001990.2:p.Asn1386Asp