Canonical Allele Identifier: CA360767344
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127692998T>C (hg19) chr5:g.128357306T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357306T>C , CM000667.2:g.128357306T>C GRCh38
NC_000005.9:g.127692998T>C , CM000667.1:g.127692998T>C GRCh37
NC_000005.8:g.127720897T>C NCBI36
NG_008750.1:g.185738A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2644A>G MANE Select ENSP00000262464.4:p.Lys882Glu
ENST00000262464.8:c.2644A>G ENSP00000262464.4:p.Lys882Glu
ENST00000508053.5:c.2644A>G ENSP00000424571.1:p.Lys882Glu
ENST00000508989.5:c.2545A>G ENSP00000425596.1:p.Lys849Glu
ENST00000619499.4:c.2641A>G ENSP00000482132.1:p.Lys881Glu
NM_001999.3:c.2644A>G NP_001990.2:p.Lys882Glu
XM_017009228.2:c.2491A>G XP_016864717.1:p.Lys831Glu
NM_001999.4:c.2644A>G MANE Select NP_001990.2:p.Lys882Glu
Search 100 bp 5'
Search 100 bp 3'