Canonical Allele Identifier: CA562717227

Gene: FBN2

Linked Data

• dbSNP Id: rs1430596376
• gnomAD v2: 5-127636983-TTAA-T
• gnomAD v3: 5-128301291-TTAA-T
• gnomAD v4: 5-128301291-TTAA-T
• MyVariant Identifiers: chr5:g.127636984_127636986del (hg19) ; chr5:g.128301292_128301294del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301293_128301295del , CM000667.2:g.128301293_128301295del	GRCh38
NC_000005.9:g.127636985_127636987del , CM000667.1:g.127636985_127636987del	GRCh37
NC_000005.8:g.127664884_127664886del	NCBI36
NG_008750.1:g.241750_241752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+88_2830+90del
ENST00000703785.1:n.2749+88_2749+90del
ENST00000262464.9:c.6046+88_6046+90del MANE Select	ENSP00000262464.4:n.6046+88_6046+90del
ENST00000262464.8:c.6046+88_6046+90del	ENSP00000262464.4:n.6046+88_6046+90del
ENST00000508053.5:c.6046+88_6046+90del	ENSP00000424571.1:n.6046+88_6046+90del
ENST00000619499.4:c.6043+88_6043+90del	ENSP00000482132.1:n.6043+88_6043+90del
NM_001999.3:c.6046+88_6046+90del	NP_001990.2:n.6046+88_6046+90del
XM_017009228.2:c.5893+88_5893+90del	XP_016864717.1:n.5893+88_5893+90del
NM_001999.4:c.6046+88_6046+90del MANE Select	NP_001990.2:n.6046+88_6046+90del