Canonical Allele Identifier: CA2675117838

Gene: FBN2

Linked Data

• gnomAD v4: 5-128339163-TAACAGTACAAGGGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339164_128339178del , CM000667.2:g.128339164_128339178del	GRCh38
NC_000005.9:g.127674856_127674870del , CM000667.1:g.127674856_127674870del	GRCh37
NC_000005.8:g.127702755_127702769del	NCBI36
NG_008750.1:g.203866_203880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.11_25del
ENST00000703785.1:n.92_106del
ENST00000262464.9:c.3344-117_3344-103del MANE Select	ENSP00000262464.4:n.3344-117_3344-103del
ENST00000262464.8:c.3344-117_3344-103del	ENSP00000262464.4:n.3344-117_3344-103del
ENST00000507835.5:c.-224_-210del	ENSP00000426839.1:n.-224_-210del
ENST00000508053.5:c.3344-117_3344-103del	ENSP00000424571.1:n.3344-117_3344-103del
ENST00000508989.5:c.3245-117_3245-103del	ENSP00000425596.1:n.3245-117_3245-103del
ENST00000619499.4:c.3341-117_3341-103del	ENSP00000482132.1:n.3341-117_3341-103del
NM_001999.3:c.3344-117_3344-103del	NP_001990.2:n.3344-117_3344-103del
XM_017009228.2:c.3191-117_3191-103del	XP_016864717.1:n.3191-117_3191-103del
NM_001999.4:c.3344-117_3344-103del MANE Select	NP_001990.2:n.3344-117_3344-103del