Canonical Allele Identifier: CA3395491

Gene: FBN2

Linked Data

• dbSNP Id: rs754568071
• ExAC: 5:127693012 C / G
• gnomAD v2: 5-127693012-C-G
• gnomAD v4: 5-128357320-C-G
• MyVariant Identifiers: chr5:g.127693012C>G (hg19) ; chr5:g.128357320C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357320C>G , CM000667.2:g.128357320C>G	GRCh38
NC_000005.9:g.127693012C>G , CM000667.1:g.127693012C>G	GRCh37
NC_000005.8:g.127720911C>G	NCBI36
NG_008750.1:g.185724G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2630G>C MANE Select	ENSP00000262464.4:p.Cys877Ser
ENST00000262464.8:c.2630G>C	ENSP00000262464.4:p.Cys877Ser
ENST00000508053.5:c.2630G>C	ENSP00000424571.1:p.Cys877Ser
ENST00000508989.5:c.2531G>C	ENSP00000425596.1:p.Cys844Ser
ENST00000619499.4:c.2627G>C	ENSP00000482132.1:p.Cys876Ser
NM_001999.3:c.2630G>C	NP_001990.2:p.Cys877Ser
XM_017009228.2:c.2477G>C	XP_016864717.1:p.Cys826Ser
NM_001999.4:c.2630G>C MANE Select	NP_001990.2:p.Cys877Ser