Canonical Allele Identifier: CA360766178

Gene: FBN2

Linked Data

• gnomAD v4: 5-128300825-T-C
• MyVariant Identifiers: chr5:g.127636517T>C (hg19) ; chr5:g.128300825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128300825T>C , CM000667.2:g.128300825T>C	GRCh38
NC_000005.9:g.127636517T>C , CM000667.1:g.127636517T>C	GRCh37
NC_000005.8:g.127664416T>C	NCBI36
NG_008750.1:g.242219A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2942A>G
ENST00000703785.1:n.2861A>G
ENST00000262464.9:c.6158A>G MANE Select	ENSP00000262464.4:p.Asn2053Ser
ENST00000262464.8:c.6158A>G	ENSP00000262464.4:p.Asn2053Ser
ENST00000508053.5:c.6158A>G	ENSP00000424571.1:p.Asn2053Ser
ENST00000619499.4:c.6155A>G	ENSP00000482132.1:p.Asn2052Ser
NM_001999.3:c.6158A>G	NP_001990.2:p.Asn2053Ser
XM_017009228.2:c.6005A>G	XP_016864717.1:p.Asn2002Ser
NM_001999.4:c.6158A>G MANE Select	NP_001990.2:p.Asn2053Ser