Canonical Allele Identifier: CA360767333
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127692994A>G (hg19) chr5:g.128357302A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357302A>G , CM000667.2:g.128357302A>G GRCh38
NC_000005.9:g.127692994A>G , CM000667.1:g.127692994A>G GRCh37
NC_000005.8:g.127720893A>G NCBI36
NG_008750.1:g.185742T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2648T>C MANE Select ENSP00000262464.4:p.Leu883Pro
ENST00000262464.8:c.2648T>C ENSP00000262464.4:p.Leu883Pro
ENST00000508053.5:c.2648T>C ENSP00000424571.1:p.Leu883Pro
ENST00000508989.5:c.2549T>C ENSP00000425596.1:p.Leu850Pro
ENST00000619499.4:c.2645T>C ENSP00000482132.1:p.Leu882Pro
NM_001999.3:c.2648T>C NP_001990.2:p.Leu883Pro
XM_017009228.2:c.2495T>C XP_016864717.1:p.Leu832Pro
NM_001999.4:c.2648T>C MANE Select NP_001990.2:p.Leu883Pro
Search 100 bp 5'
Search 100 bp 3'