Canonical Allele Identifier: CA127007039

Gene: FBN2

Linked Data

• dbSNP Id: rs567588127
• gnomAD v3: 5-128333070-T-C
• gnomAD v4: 5-128333070-T-C
• MyVariant Identifiers: chr5:g.127668762T>C (hg19) ; chr5:g.128333070T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333070T>C , CM000667.2:g.128333070T>C	GRCh38
NC_000005.9:g.127668762T>C , CM000667.1:g.127668762T>C	GRCh37
NC_000005.8:g.127696661T>C	NCBI36
NG_008750.1:g.209974A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-36A>G
ENST00000703785.1:n.965-36A>G
ENST00000262464.9:c.4100-36A>G MANE Select	ENSP00000262464.4:n.4100-36A>G
ENST00000262464.8:c.4100-36A>G	ENSP00000262464.4:n.4100-36A>G
ENST00000507835.5:c.650-36A>G	ENSP00000426839.1:n.650-36A>G
ENST00000508053.5:c.4100-36A>G	ENSP00000424571.1:n.4100-36A>G
ENST00000508989.5:c.4001-36A>G	ENSP00000425596.1:n.4001-36A>G
ENST00000619499.4:c.4097-36A>G	ENSP00000482132.1:n.4097-36A>G
NM_001999.3:c.4100-36A>G	NP_001990.2:n.4100-36A>G
XM_017009228.2:c.3947-36A>G	XP_016864717.1:n.3947-36A>G
NM_001999.4:c.4100-36A>G MANE Select	NP_001990.2:n.4100-36A>G