Canonical Allele Identifier: CA360754197

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666375C>G (hg19) ; chr5:g.128330683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330683C>G , CM000667.2:g.128330683C>G	GRCh38
NC_000005.9:g.127666375C>G , CM000667.1:g.127666375C>G	GRCh37
NC_000005.8:g.127694274C>G	NCBI36
NG_008750.1:g.212361G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1019G>C
ENST00000703785.1:n.1100G>C
ENST00000262464.9:c.4235G>C MANE Select	ENSP00000262464.4:p.Cys1412Ser
ENST00000262464.8:c.4235G>C	ENSP00000262464.4:p.Cys1412Ser
ENST00000507835.5:c.785G>C	ENSP00000426839.1:p.Cys262Ser
ENST00000508053.5:c.4235G>C	ENSP00000424571.1:p.Cys1412Ser
ENST00000508989.5:c.4136G>C	ENSP00000425596.1:p.Cys1379Ser
ENST00000619499.4:c.4232G>C	ENSP00000482132.1:p.Cys1411Ser
NM_001999.3:c.4235G>C	NP_001990.2:p.Cys1412Ser
XM_017009228.2:c.4082G>C	XP_016864717.1:p.Cys1361Ser
NM_001999.4:c.4235G>C MANE Select	NP_001990.2:p.Cys1412Ser