Canonical Allele Identifier: CA324510
Gene: FBN2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.128335463G>A
GRCh37 chr5:g.127671155G>A
Revel Score:
ENST00000262464 (MANE Select) 0.419
ENST00000508053 0.419
ENST00000507835 0.419
ENST00000508989 0.419
gnomAD v2:
5:127671155 G / A
gnomAD v3:
5:128335463 G / A
gnomAD v4:
chr5-128335463-G-A
Joint Max Group AF 0.00012915 (NFE)
Genomes Max Group AF 0.00006804 (NFE)
Exomes Max Group AF 0.00012977 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335463G>A , CM000667.2:g.128335463G>A GRCh38
NC_000005.9:g.127671155G>A , CM000667.1:g.127671155G>A GRCh37
NC_000005.8:g.127699054G>A NCBI36
NG_008750.1:g.207581C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.623C>T
ENST00000703785.1:n.704C>T
ENST00000262464.9:c.3839C>T MANE Select ENSP00000262464.4:p.Ser1280Leu
ENST00000262464.8:c.3839C>T ENSP00000262464.4:p.Ser1280Leu
ENST00000507835.5:c.389C>T ENSP00000426839.1:p.Ser130Leu
ENST00000508053.5:c.3839C>T ENSP00000424571.1:p.Ser1280Leu
ENST00000508989.5:c.3740C>T ENSP00000425596.1:p.Ser1247Leu
ENST00000619499.4:c.3836C>T ENSP00000482132.1:p.Ser1279Leu
NM_001999.3:c.3839C>T NP_001990.2:p.Ser1280Leu
XM_017009228.2:c.3686C>T XP_016864717.1:p.Ser1229Leu
NM_001999.4:c.3839C>T MANE Select NP_001990.2:p.Ser1280Leu
Search 100 bp 5'
Search 100 bp 3'