Canonical Allele Identifier: CA360758182

Gene: FBN2

Linked Data

• COSMIC: COSM735824 ; COSM735825
• MyVariant Identifiers: chr5:g.127671680C>G (hg19) ; chr5:g.128335988C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335988C>G , CM000667.2:g.128335988C>G	GRCh38
NC_000005.9:g.127671680C>G , CM000667.1:g.127671680C>G	GRCh37
NC_000005.8:g.127699579C>G	NCBI36
NG_008750.1:g.207056G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.508G>C
ENST00000703785.1:n.589G>C
ENST00000262464.9:c.3724G>C MANE Select	ENSP00000262464.4:p.Asp1242His
ENST00000262464.8:c.3724G>C	ENSP00000262464.4:p.Asp1242His
ENST00000507835.5:c.274G>C	ENSP00000426839.1:p.Asp92His
ENST00000508053.5:c.3724G>C	ENSP00000424571.1:p.Asp1242His
ENST00000508989.5:c.3625G>C	ENSP00000425596.1:p.Asp1209His
ENST00000619499.4:c.3721G>C	ENSP00000482132.1:p.Asp1241His
NM_001999.3:c.3724G>C	NP_001990.2:p.Asp1242His
XM_017009228.2:c.3571G>C	XP_016864717.1:p.Asp1191His
NM_001999.4:c.3724G>C MANE Select	NP_001990.2:p.Asp1242His