Canonical Allele Identifier: CA446310671

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673774A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338082A>G , CM000667.2:g.128338082A>G	GRCh38
NC_000005.9:g.127673774A>G , CM000667.1:g.127673774A>G	GRCh37
NC_000005.8:g.127701673A>G	NCBI36
NG_008750.1:g.204962T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.297T>C
ENST00000703785.1:n.378T>C
ENST00000262464.9:c.3513T>C MANE Select	ENSP00000262464.4:p.Gly1171=
ENST00000262464.8:c.3513T>C	ENSP00000262464.4:p.Gly1171=
ENST00000507835.5:c.63T>C	ENSP00000426839.1:p.Gly21=
ENST00000508053.5:c.3513T>C	ENSP00000424571.1:p.Gly1171=
ENST00000508989.5:c.3414T>C	ENSP00000425596.1:p.Gly1138=
ENST00000619499.4:c.3510T>C	ENSP00000482132.1:p.Gly1170=
NM_001999.3:c.3513T>C	NP_001990.2:p.Gly1171=
XM_017009228.2:c.3360T>C	XP_016864717.1:p.Gly1120=
NM_001999.4:c.3513T>C MANE Select	NP_001990.2:p.Gly1171=