Canonical Allele Identifier: CA1581284153
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128361684C= , CM000667.2:g.128361684C= GRCh38
NC_000005.9:g.127697377C= , CM000667.1:g.127697377C= GRCh37
NC_000005.8:g.127725276C= NCBI36
NG_008750.1:g.181359G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.2554+39G= MANE Select ENSP00000262464.4:n.2554+39G=
ENST00000262464.8:c.2554+39G= ENSP00000262464.4:n.2554+39G=
ENST00000508053.5:c.2554+39G= ENSP00000424571.1:n.2554+39G=
ENST00000508989.5:c.2455+39G= ENSP00000425596.1:n.2455+39G=
ENST00000619499.4:c.2551+39G= ENSP00000482132.1:n.2551+39G=
NM_001999.3:c.2554+39G= NP_001990.2:n.2554+39G=
XM_017009228.2:c.2401+39G= XP_016864717.1:n.2401+39G=
NM_001999.4:c.2554+39G= MANE Select NP_001990.2:n.2554+39G=
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