Canonical Allele Identifier: CA1581284161
Gene: FBN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128361702G= , CM000667.2:g.128361702G= GRCh38
NC_000005.9:g.127697395G= , CM000667.1:g.127697395G= GRCh37
NC_000005.8:g.127725294G= NCBI36
NG_008750.1:g.181341C=

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.2554+21C= MANE Select ENSP00000262464.4:n.2554+21C=
ENST00000262464.8:c.2554+21C= ENSP00000262464.4:n.2554+21C=
ENST00000508053.5:c.2554+21C= ENSP00000424571.1:n.2554+21C=
ENST00000508989.5:c.2455+21C= ENSP00000425596.1:n.2455+21C=
ENST00000619499.4:c.2551+21C= ENSP00000482132.1:n.2551+21C=
NM_001999.3:c.2554+21C= NP_001990.2:n.2554+21C=
XM_017009228.2:c.2401+21C= XP_016864717.1:n.2401+21C=
NM_001999.4:c.2554+21C= MANE Select NP_001990.2:n.2554+21C=
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