Canonical Allele Identifier: CA322422

Gene: FBN2

Linked Data

• dbSNP Id: rs1554123060
• MyVariant Identifiers: chr5:g.127673767A>C (hg19) ; chr5:g.128338075A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338075A>C , CM000667.2:g.128338075A>C	GRCh38
NC_000005.9:g.127673767A>C , CM000667.1:g.127673767A>C	GRCh37
NC_000005.8:g.127701666A>C	NCBI36
NG_008750.1:g.204969T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.304T>G
ENST00000703785.1:n.385T>G
ENST00000262464.9:c.3520T>G MANE Select	ENSP00000262464.4:p.Cys1174Gly
ENST00000262464.8:c.3520T>G	ENSP00000262464.4:p.Cys1174Gly
ENST00000507835.5:c.70T>G	ENSP00000426839.1:p.Cys24Gly
ENST00000508053.5:c.3520T>G	ENSP00000424571.1:p.Cys1174Gly
ENST00000508989.5:c.3421T>G	ENSP00000425596.1:p.Cys1141Gly
ENST00000619499.4:c.3517T>G	ENSP00000482132.1:p.Cys1173Gly
NM_001999.3:c.3520T>G	NP_001990.2:p.Cys1174Gly
XM_017009228.2:c.3367T>G	XP_016864717.1:p.Cys1123Gly
NM_001999.4:c.3520T>G MANE Select	NP_001990.2:p.Cys1174Gly