Canonical Allele Identifier: CA3394055

Gene: FBN2

Linked Data

• ClinVar Variation Id: 373613
• ClinVar RCV Id: RCV000414132 ; RCV003640889
• dbSNP Id: rs764514988
• ExAC: 5:127610312 C / G
• gnomAD v2: 5-127610312-C-G
• gnomAD v3: 5-128274620-C-G
• gnomAD v4: 5-128274620-C-G
• MyVariant Identifiers: chr5:g.127610312C>G (hg19) ; chr5:g.128274620C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128274620C>G , CM000667.2:g.128274620C>G	GRCh38
NC_000005.9:g.127610312C>G , CM000667.1:g.127610312C>G	GRCh37
NC_000005.8:g.127638211C>G	NCBI36
NG_008750.1:g.268424G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.4442G>C
ENST00000262464.9:c.7658G>C MANE Select	ENSP00000262464.4:p.Gly2553Ala
ENST00000262464.8:c.7658G>C	ENSP00000262464.4:p.Gly2553Ala
ENST00000508053.5:c.7658G>C	ENSP00000424571.1:p.Gly2553Ala
ENST00000619499.4:c.7655G>C	ENSP00000482132.1:p.Gly2552Ala
NM_001999.3:c.7658G>C	NP_001990.2:p.Gly2553Ala
XM_017009228.2:c.7505G>C	XP_016864717.1:p.Gly2502Ala
NM_001999.4:c.7658G>C MANE Select	NP_001990.2:p.Gly2553Ala