Canonical Allele Identifier: CA3395206
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 576719
ClinVar RCV Id: RCV000699284 RCV002458273
dbSNP Id: rs138303817
ExAC: 5:127673773 C / T
gnomAD v2: 5-127673773-C-T
gnomAD v3: 5-128338081-C-T
gnomAD v4: 5-128338081-C-T
MyVariant Identifiers: chr5:g.127673773C>T (hg19) chr5:g.128338081C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338081C>T , CM000667.2:g.128338081C>T GRCh38
NC_000005.9:g.127673773C>T , CM000667.1:g.127673773C>T GRCh37
NC_000005.8:g.127701672C>T NCBI36
NG_008750.1:g.204963G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.298G>A
ENST00000703785.1:n.379G>A
ENST00000262464.9:c.3514G>A MANE Select ENSP00000262464.4:p.Gly1172Ser
ENST00000262464.8:c.3514G>A ENSP00000262464.4:p.Gly1172Ser
ENST00000507835.5:c.64G>A ENSP00000426839.1:p.Gly22Ser
ENST00000508053.5:c.3514G>A ENSP00000424571.1:p.Gly1172Ser
ENST00000508989.5:c.3415G>A ENSP00000425596.1:p.Gly1139Ser
ENST00000619499.4:c.3511G>A ENSP00000482132.1:p.Gly1171Ser
NM_001999.3:c.3514G>A NP_001990.2:p.Gly1172Ser
XM_017009228.2:c.3361G>A XP_016864717.1:p.Gly1121Ser
NM_001999.4:c.3514G>A MANE Select NP_001990.2:p.Gly1172Ser
Search 100 bp 5'
Search 100 bp 3'