Canonical Allele Identifier: CA360758001

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671197C>G (hg19) ; chr5:g.128335505C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335505C>G , CM000667.2:g.128335505C>G	GRCh38
NC_000005.9:g.127671197C>G , CM000667.1:g.127671197C>G	GRCh37
NC_000005.8:g.127699096C>G	NCBI36
NG_008750.1:g.207539G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.581G>C
ENST00000703785.1:n.662G>C
ENST00000262464.9:c.3797G>C MANE Select	ENSP00000262464.4:p.Cys1266Ser
ENST00000262464.8:c.3797G>C	ENSP00000262464.4:p.Cys1266Ser
ENST00000507835.5:c.347G>C	ENSP00000426839.1:p.Cys116Ser
ENST00000508053.5:c.3797G>C	ENSP00000424571.1:p.Cys1266Ser
ENST00000508989.5:c.3698G>C	ENSP00000425596.1:p.Cys1233Ser
ENST00000619499.4:c.3794G>C	ENSP00000482132.1:p.Cys1265Ser
NM_001999.3:c.3797G>C	NP_001990.2:p.Cys1266Ser
XM_017009228.2:c.3644G>C	XP_016864717.1:p.Cys1215Ser
NM_001999.4:c.3797G>C MANE Select	NP_001990.2:p.Cys1266Ser