Canonical Allele Identifier: CA360758027

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671207T>C (hg19) ; chr5:g.128335515T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335515T>C , CM000667.2:g.128335515T>C	GRCh38
NC_000005.9:g.127671207T>C , CM000667.1:g.127671207T>C	GRCh37
NC_000005.8:g.127699106T>C	NCBI36
NG_008750.1:g.207529A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.571A>G
ENST00000703785.1:n.652A>G
ENST00000262464.9:c.3787A>G MANE Select	ENSP00000262464.4:p.Ser1263Gly
ENST00000262464.8:c.3787A>G	ENSP00000262464.4:p.Ser1263Gly
ENST00000507835.5:c.337A>G	ENSP00000426839.1:p.Ser113Gly
ENST00000508053.5:c.3787A>G	ENSP00000424571.1:p.Ser1263Gly
ENST00000508989.5:c.3688A>G	ENSP00000425596.1:p.Ser1230Gly
ENST00000619499.4:c.3784A>G	ENSP00000482132.1:p.Ser1262Gly
NM_001999.3:c.3787A>G	NP_001990.2:p.Ser1263Gly
XM_017009228.2:c.3634A>G	XP_016864717.1:p.Ser1212Gly
NM_001999.4:c.3787A>G MANE Select	NP_001990.2:p.Ser1263Gly