Canonical Allele Identifier: CA360750752

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2721188
• ClinVar RCV Id: RCV003526806
• gnomAD v4: 5-128395197-T-C
• MyVariant Identifiers: chr5:g.127730890T>C (hg19) ; chr5:g.128395197T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395197T>C , CM000667.2:g.128395197T>C	GRCh38
NC_000005.9:g.127730890T>C , CM000667.1:g.127730890T>C	GRCh37
NC_000005.8:g.127758789T>C	NCBI36
NG_008750.1:g.147846A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.863A>G
ENST00000262464.9:c.1156A>G MANE Select	ENSP00000262464.4:p.Met386Val
ENST00000262464.8:c.1156A>G	ENSP00000262464.4:p.Met386Val
ENST00000508053.5:c.1156A>G	ENSP00000424571.1:p.Met386Val
ENST00000508989.5:c.1057A>G	ENSP00000425596.1:p.Met353Val
ENST00000619499.4:c.1153A>G	ENSP00000482132.1:p.Met385Val
NM_001999.3:c.1156A>G	NP_001990.2:p.Met386Val
XM_017009228.2:c.1079-1829A>G	XP_016864717.1:n.1079-1829A>G
NM_001999.4:c.1156A>G MANE Select	NP_001990.2:p.Met386Val