Canonical Allele Identifier: CA446312321
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1794128
ClinVar RCV Id: RCV002428601 RCV003331367
dbSNP Id: rs1204255824
gnomAD v2: 5-127693005-G-A
gnomAD v3: 5-128357313-G-A
gnomAD v4: 5-128357313-G-A
COSMIC: COSM5787087 COSM5787088
MyVariant Identifiers: chr5:g.127693005G>A (hg19) chr5:g.128357313G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357313G>A , CM000667.2:g.128357313G>A GRCh38
NC_000005.9:g.127693005G>A , CM000667.1:g.127693005G>A GRCh37
NC_000005.8:g.127720904G>A NCBI36
NG_008750.1:g.185731C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2637C>T MANE Select ENSP00000262464.4:p.Pro879=
ENST00000262464.8:c.2637C>T ENSP00000262464.4:p.Pro879=
ENST00000508053.5:c.2637C>T ENSP00000424571.1:p.Pro879=
ENST00000508989.5:c.2538C>T ENSP00000425596.1:p.Pro846=
ENST00000619499.4:c.2634C>T ENSP00000482132.1:p.Pro878=
NM_001999.3:c.2637C>T NP_001990.2:p.Pro879=
XM_017009228.2:c.2484C>T XP_016864717.1:p.Pro828=
NM_001999.4:c.2637C>T MANE Select NP_001990.2:p.Pro879=
Search 100 bp 5'
Search 100 bp 3'