Canonical Allele Identifier: CA322580

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213302
• ClinVar RCV Id: RCV000695273
• dbSNP Id: rs774996980
• ExAC: 5:127680185 C / A
• gnomAD v2: 5-127680185-C-A
• gnomAD v3: 5-128344493-C-A
• gnomAD v4: 5-128344493-C-A
• MyVariant Identifiers: chr5:g.127680185C>A (hg19) ; chr5:g.128344493C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344493C>A , CM000667.2:g.128344493C>A	GRCh38
NC_000005.9:g.127680185C>A , CM000667.1:g.127680185C>A	GRCh37
NC_000005.8:g.127708084C>A	NCBI36
NG_008750.1:g.198551G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.3235G>T MANE Select	ENSP00000262464.4:p.Ala1079Ser
ENST00000262464.8:c.3235G>T	ENSP00000262464.4:p.Ala1079Ser
ENST00000508053.5:c.3235G>T	ENSP00000424571.1:p.Ala1079Ser
ENST00000508989.5:c.3136G>T	ENSP00000425596.1:p.Ala1046Ser
ENST00000619499.4:c.3232G>T	ENSP00000482132.1:p.Ala1078Ser
NM_001999.3:c.3235G>T	NP_001990.2:p.Ala1079Ser
XM_017009228.2:c.3082G>T	XP_016864717.1:p.Ala1028Ser
NM_001999.4:c.3235G>T MANE Select	NP_001990.2:p.Ala1079Ser