Canonical Allele Identifier: CA446310644

Gene: FBN2

Linked Data

• COSMIC: COSM5719067 ; COSM5719068
• MyVariant Identifiers: chr5:g.127673762C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338070C>G , CM000667.2:g.128338070C>G	GRCh38
NC_000005.9:g.127673762C>G , CM000667.1:g.127673762C>G	GRCh37
NC_000005.8:g.127701661C>G	NCBI36
NG_008750.1:g.204974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.309G>C
ENST00000703785.1:n.390G>C
ENST00000262464.9:c.3525G>C MANE Select	ENSP00000262464.4:p.Val1175=
ENST00000262464.8:c.3525G>C	ENSP00000262464.4:p.Val1175=
ENST00000507835.5:c.75G>C	ENSP00000426839.1:p.Val25=
ENST00000508053.5:c.3525G>C	ENSP00000424571.1:p.Val1175=
ENST00000508989.5:c.3426G>C	ENSP00000425596.1:p.Val1142=
ENST00000619499.4:c.3522G>C	ENSP00000482132.1:p.Val1174=
NM_001999.3:c.3525G>C	NP_001990.2:p.Val1175=
XM_017009228.2:c.3372G>C	XP_016864717.1:p.Val1124=
NM_001999.4:c.3525G>C MANE Select	NP_001990.2:p.Val1175=