Canonical Allele Identifier: CA360739839
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127640679T>C (hg19) chr5:g.128304987T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128304987T>C , CM000667.2:g.128304987T>C GRCh38
NC_000005.9:g.127640679T>C , CM000667.1:g.127640679T>C GRCh37
NC_000005.8:g.127668578T>C NCBI36
NG_008750.1:g.238057A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2554A>G
ENST00000703785.1:n.2473A>G
ENST00000262464.9:c.5770A>G MANE Select ENSP00000262464.4:p.Lys1924Glu
ENST00000262464.8:c.5770A>G ENSP00000262464.4:p.Lys1924Glu
ENST00000508053.5:c.5770A>G ENSP00000424571.1:p.Lys1924Glu
ENST00000619499.4:c.5767A>G ENSP00000482132.1:p.Lys1923Glu
NM_001999.3:c.5770A>G NP_001990.2:p.Lys1924Glu
XM_017009228.2:c.5617A>G XP_016864717.1:p.Lys1873Glu
NM_001999.4:c.5770A>G MANE Select NP_001990.2:p.Lys1924Glu
Search 100 bp 5'
Search 100 bp 3'