Canonical Allele Identifier: CA126995053

Gene: FBN2

Linked Data

• dbSNP Id: rs138239541
• gnomAD v2: 5-127653099-CAAA-C
• gnomAD v3: 5-128317407-CAAA-C
• gnomAD v4: 5-128317407-CAAA-C
• MyVariant Identifiers: chr5:g.127653100_127653102del (hg19) ; chr5:g.128317408_128317410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317409_128317411del , CM000667.2:g.128317409_128317411del	GRCh38
NC_000005.9:g.127653101_127653103del , CM000667.1:g.127653101_127653103del	GRCh37
NC_000005.8:g.127681000_127681002del	NCBI36
NG_008750.1:g.225634_225636del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1501+739_1501+741del
ENST00000703785.1:n.1582+739_1582+741del
ENST00000262464.9:c.4717+739_4717+741del MANE Select	ENSP00000262464.4:n.4717+739_4717+741del
ENST00000262464.8:c.4717+739_4717+741del	ENSP00000262464.4:n.4717+739_4717+741del
ENST00000508053.5:c.4717+739_4717+741del	ENSP00000424571.1:n.4717+739_4717+741del
ENST00000619499.4:c.4714+739_4714+741del	ENSP00000482132.1:n.4714+739_4714+741del
NM_001999.3:c.4717+739_4717+741del	NP_001990.2:n.4717+739_4717+741del
XM_017009228.2:c.4564+739_4564+741del	XP_016864717.1:n.4564+739_4564+741del
NM_001999.4:c.4717+739_4717+741del MANE Select	NP_001990.2:n.4717+739_4717+741del