Canonical Allele Identifier: CA446306088
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127730840A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395147A>G , CM000667.2:g.128395147A>G GRCh38
NC_000005.9:g.127730840A>G , CM000667.1:g.127730840A>G GRCh37
NC_000005.8:g.127758739A>G NCBI36
NG_008750.1:g.147896T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.913T>C
ENST00000262464.9:c.1206T>C MANE Select ENSP00000262464.4:p.Pro402=
ENST00000262464.8:c.1206T>C ENSP00000262464.4:p.Pro402=
ENST00000508053.5:c.1206T>C ENSP00000424571.1:p.Pro402=
ENST00000508989.5:c.1107T>C ENSP00000425596.1:p.Pro369=
ENST00000619499.4:c.1203T>C ENSP00000482132.1:p.Pro401=
NM_001999.3:c.1206T>C NP_001990.2:p.Pro402=
XM_017009228.2:c.1079-1779T>C XP_016864717.1:n.1079-1779T>C
NM_001999.4:c.1206T>C MANE Select NP_001990.2:p.Pro402=
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