Canonical Allele Identifier: CA2675117526

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338038-G-GTGACTGCCCACT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338038_128338039insTGACTGCCCACT , CM000667.2:g.128338038_128338039insTGACTGCCCACT	GRCh38
NC_000005.9:g.127673730_127673731insTGACTGCCCACT , CM000667.1:g.127673730_127673731insTGACTGCCCACT	GRCh37
NC_000005.8:g.127701629_127701630insTGACTGCCCACT	NCBI36
NG_008750.1:g.205005_205006insAGTGGGCAGTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.340_341insAGTGGGCAGTCA
ENST00000703785.1:n.421_422insAGTGGGCAGTCA
ENST00000262464.9:c.3556_3557insAGTGGGCAGTCA MANE Select	ENSP00000262464.4:p.Pro1186delinsGlnTrpAlaValThr
ENST00000262464.8:c.3556_3557insAGTGGGCAGTCA	ENSP00000262464.4:p.Pro1186delinsGlnTrpAlaValThr
ENST00000507835.5:c.106_107insAGTGGGCAGTCA	ENSP00000426839.1:p.Pro36delinsGlnTrpAlaValThr
ENST00000508053.5:c.3556_3557insAGTGGGCAGTCA	ENSP00000424571.1:p.Pro1186delinsGlnTrpAlaValThr
ENST00000508989.5:c.3457_3458insAGTGGGCAGTCA	ENSP00000425596.1:p.Pro1153delinsGlnTrpAlaValThr
ENST00000619499.4:c.3553_3554insAGTGGGCAGTCA	ENSP00000482132.1:p.Pro1185delinsGlnTrpAlaValThr
NM_001999.3:c.3556_3557insAGTGGGCAGTCA	NP_001990.2:p.Pro1186delinsGlnTrpAlaValThr
XM_017009228.2:c.3403_3404insAGTGGGCAGTCA	XP_016864717.1:p.Pro1135delinsGlnTrpAlaValThr
NM_001999.4:c.3556_3557insAGTGGGCAGTCA MANE Select	NP_001990.2:p.Pro1186delinsGlnTrpAlaValThr