Canonical Allele Identifier: CA10622465

Gene: FBN2

Linked Data

• ClinVar Variation Id: 350751
• ClinVar RCV Id: RCV000344925
• dbSNP Id: rs142804569
• gnomAD v2: 5-127594874-A-G
• gnomAD v3: 5-128259182-A-G
• gnomAD v4: 5-128259182-A-G
• MyVariant Identifiers: chr5:g.127594874A>G (hg19) ; chr5:g.128259182A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128259182A>G , CM000667.2:g.128259182A>G	GRCh38
NC_000005.9:g.127594874A>G , CM000667.1:g.127594874A>G	GRCh37
NC_000005.8:g.127622773A>G	NCBI36
NG_008750.1:g.283862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.*273T>C MANE Select	ENSP00000262464.4:n.*273T>C
ENST00000262464.8:c.*273T>C	ENSP00000262464.4:n.*273T>C
ENST00000508053.5:c.*273T>C	ENSP00000424571.1:n.*273T>C
ENST00000619499.4:c.9009T>C	ENSP00000482132.1:n.9009T>C
NM_001999.3:c.*273T>C	NP_001990.2:n.*273T>C
XM_017009228.2:c.*273T>C	XP_016864717.1:n.*273T>C
NM_001999.4:c.*273T>C MANE Select	NP_001990.2:n.*273T>C