Canonical Allele Identifier: CA3394224

Gene: FBN2

Linked Data

• ClinVar Variation Id: 519860
• ClinVar RCV Id: RCV001053182 ; RCV001572264 ; RCV002313341
• dbSNP Id: rs771718967
• ExAC: 5:127615937 C / G
• gnomAD v2: 5-127615937-C-G
• gnomAD v3: 5-128280245-C-G
• gnomAD v4: 5-128280245-C-G
• MyVariant Identifiers: chr5:g.127615937C>G (hg19) ; chr5:g.128280245C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128280245C>G , CM000667.2:g.128280245C>G	GRCh38
NC_000005.9:g.127615937C>G , CM000667.1:g.127615937C>G	GRCh37
NC_000005.8:g.127643836C>G	NCBI36
NG_008750.1:g.262799G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.3869G>C
ENST00000262464.9:c.7085G>C MANE Select	ENSP00000262464.4:p.Arg2362Thr
ENST00000262464.8:c.7085G>C	ENSP00000262464.4:p.Arg2362Thr
ENST00000508053.5:c.7085G>C	ENSP00000424571.1:p.Arg2362Thr
ENST00000619499.4:c.7082G>C	ENSP00000482132.1:p.Arg2361Thr
NM_001999.3:c.7085G>C	NP_001990.2:p.Arg2362Thr
XM_017009228.2:c.6932G>C	XP_016864717.1:p.Arg2311Thr
NM_001999.4:c.7085G>C MANE Select	NP_001990.2:p.Arg2362Thr