Canonical Allele Identifier: CA360759197

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673712G>T (hg19) ; chr5:g.128338020G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338020G>T , CM000667.2:g.128338020G>T	GRCh38
NC_000005.9:g.127673712G>T , CM000667.1:g.127673712G>T	GRCh37
NC_000005.8:g.127701611G>T	NCBI36
NG_008750.1:g.205024C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.359C>A
ENST00000703785.1:n.440C>A
ENST00000262464.9:c.3575C>A MANE Select	ENSP00000262464.4:p.Ser1192Ter
ENST00000262464.8:c.3575C>A	ENSP00000262464.4:p.Ser1192Ter
ENST00000507835.5:c.125C>A	ENSP00000426839.1:p.Ser42Ter
ENST00000508053.5:c.3575C>A	ENSP00000424571.1:p.Ser1192Ter
ENST00000508989.5:c.3476C>A	ENSP00000425596.1:p.Ser1159Ter
ENST00000619499.4:c.3572C>A	ENSP00000482132.1:p.Ser1191Ter
NM_001999.3:c.3575C>A	NP_001990.2:p.Ser1192Ter
XM_017009228.2:c.3422C>A	XP_016864717.1:p.Ser1141Ter
NM_001999.4:c.3575C>A MANE Select	NP_001990.2:p.Ser1192Ter