Canonical Allele Identifier: CA360754943

Gene: FBN2

Linked Data

• dbSNP Id: rs1750733154
• MyVariant Identifiers: chr5:g.127668652T>G (hg19) ; chr5:g.128332960T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332960T>G , CM000667.2:g.128332960T>G	GRCh38
NC_000005.9:g.127668652T>G , CM000667.1:g.127668652T>G	GRCh37
NC_000005.8:g.127696551T>G	NCBI36
NG_008750.1:g.210084A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.958A>C
ENST00000703785.1:n.1039A>C
ENST00000262464.9:c.4174A>C MANE Select	ENSP00000262464.4:p.Lys1392Gln
ENST00000262464.8:c.4174A>C	ENSP00000262464.4:p.Lys1392Gln
ENST00000507835.5:c.724A>C	ENSP00000426839.1:p.Lys242Gln
ENST00000508053.5:c.4174A>C	ENSP00000424571.1:p.Lys1392Gln
ENST00000508989.5:c.4075A>C	ENSP00000425596.1:p.Lys1359Gln
ENST00000619499.4:c.4171A>C	ENSP00000482132.1:p.Lys1391Gln
NM_001999.3:c.4174A>C	NP_001990.2:p.Lys1392Gln
XM_017009228.2:c.4021A>C	XP_016864717.1:p.Lys1341Gln
NM_001999.4:c.4174A>C MANE Select	NP_001990.2:p.Lys1392Gln