Canonical Allele Identifier: CA127026863

Gene: FBN2

Linked Data

• dbSNP Id: rs149429219
• gnomAD v3: 5-128357309-T-C
• gnomAD v4: 5-128357309-T-C
• MyVariant Identifiers: chr5:g.127693001T>C (hg19) ; chr5:g.128357309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357309T>C , CM000667.2:g.128357309T>C	GRCh38
NC_000005.9:g.127693001T>C , CM000667.1:g.127693001T>C	GRCh37
NC_000005.8:g.127720900T>C	NCBI36
NG_008750.1:g.185735A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2641A>G MANE Select	ENSP00000262464.4:p.Ser881Gly
ENST00000262464.8:c.2641A>G	ENSP00000262464.4:p.Ser881Gly
ENST00000508053.5:c.2641A>G	ENSP00000424571.1:p.Ser881Gly
ENST00000508989.5:c.2542A>G	ENSP00000425596.1:p.Ser848Gly
ENST00000619499.4:c.2638A>G	ENSP00000482132.1:p.Ser880Gly
NM_001999.3:c.2641A>G	NP_001990.2:p.Ser881Gly
XM_017009228.2:c.2488A>G	XP_016864717.1:p.Ser830Gly
NM_001999.4:c.2641A>G MANE Select	NP_001990.2:p.Ser881Gly