Canonical Allele Identifier: CA325081

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213430
• ClinVar RCV Id: RCV000200499 ; RCV000226426 ; RCV002372171
• dbSNP Id: rs765693576
• ExAC: 5:127595242 C / G
• gnomAD v2: 5-127595242-C-G
• gnomAD v3: 5-128259550-C-G
• gnomAD v4: 5-128259550-C-G
• MyVariant Identifiers: chr5:g.127595242C>G (hg19) ; chr5:g.127595242_127595245delinsGCTT (hg19) ; chr5:g.128259550C>G (hg38) ; chr5:g.128259550_128259553delinsGCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128259550C>G , CM000667.2:g.128259550C>G	GRCh38
NC_000005.9:g.127595242C>G , CM000667.1:g.127595242C>G	GRCh37
NC_000005.8:g.127623141C>G	NCBI36
NG_008750.1:g.283494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.8644G>C MANE Select	ENSP00000262464.4:p.Glu2882Gln
ENST00000262464.8:c.8644G>C	ENSP00000262464.4:p.Glu2882Gln
ENST00000508053.5:c.8644G>C	ENSP00000424571.1:p.Glu2882Gln
ENST00000619499.4:c.8641G>C	ENSP00000482132.1:p.Glu2881Gln
NM_001999.3:c.8644G>C	NP_001990.2:p.Glu2882Gln
XM_017009228.2:c.8491G>C	XP_016864717.1:p.Glu2831Gln
NM_001999.4:c.8644G>C MANE Select	NP_001990.2:p.Glu2882Gln