Canonical Allele Identifier: CA3395247
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128339001G>A
GRCh37 chr5:g.127674693G>A
Revel Score:
ENST00000262464 (MANE Select) 0.643
ENST00000508053 0.643
ENST00000508989 0.643
gnomAD v2:
5:127674693 G / A
gnomAD v3:
5:128339001 G / A
gnomAD v4:
chr5-128339001-G-A
Joint Max Group AF 0.00002234 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00002286 (NFE)
ClinVar Allele:
394613
ClinVar RCV:
RCV000459625
RCV003221992
RCV003380580
ClinVar Variation:
411819
dbSNP:
772041342
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128339001G>A , CM000667.2:g.128339001G>A GRCh38
NC_000005.9:g.127674693G>A , CM000667.1:g.127674693G>A GRCh37
NC_000005.8:g.127702592G>A NCBI36
NG_008750.1:g.204043C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.188C>T
ENST00000703785.1:n.269C>T
ENST00000262464.9:c.3404C>T MANE Select ENSP00000262464.4:p.Pro1135Leu
ENST00000262464.8:c.3404C>T ENSP00000262464.4:p.Pro1135Leu
ENST00000507835.5:c.-47C>T ENSP00000426839.1:n.-47C>T
ENST00000508053.5:c.3404C>T ENSP00000424571.1:p.Pro1135Leu
ENST00000508989.5:c.3305C>T ENSP00000425596.1:p.Pro1102Leu
ENST00000619499.4:c.3401C>T ENSP00000482132.1:p.Pro1134Leu
NM_001999.3:c.3404C>T NP_001990.2:p.Pro1135Leu
XM_017009228.2:c.3251C>T XP_016864717.1:p.Pro1084Leu
NM_001999.4:c.3404C>T MANE Select NP_001990.2:p.Pro1135Leu
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