Canonical Allele Identifier: CA2675114179

Gene: FBN2

Linked Data

• gnomAD v4: 5-128301237-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301237A>C , CM000667.2:g.128301237A>C	GRCh38
NC_000005.9:g.127636929A>C , CM000667.1:g.127636929A>C	GRCh37
NC_000005.8:g.127664828A>C	NCBI36
NG_008750.1:g.241807T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+145T>G
ENST00000703785.1:n.2749+145T>G
ENST00000262464.9:c.6046+145T>G MANE Select	ENSP00000262464.4:n.6046+145T>G
ENST00000262464.8:c.6046+145T>G	ENSP00000262464.4:n.6046+145T>G
ENST00000508053.5:c.6046+145T>G	ENSP00000424571.1:n.6046+145T>G
ENST00000619499.4:c.6043+145T>G	ENSP00000482132.1:n.6043+145T>G
NM_001999.3:c.6046+145T>G	NP_001990.2:n.6046+145T>G
XM_017009228.2:c.5893+145T>G	XP_016864717.1:n.5893+145T>G
NM_001999.4:c.6046+145T>G MANE Select	NP_001990.2:n.6046+145T>G