Canonical Allele Identifier: CA360754684

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668621T>G (hg19) ; chr5:g.128332929T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332929T>G , CM000667.2:g.128332929T>G	GRCh38
NC_000005.9:g.127668621T>G , CM000667.1:g.127668621T>G	GRCh37
NC_000005.8:g.127696520T>G	NCBI36
NG_008750.1:g.210115A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.989A>C
ENST00000703785.1:n.1070A>C
ENST00000262464.9:c.4205A>C MANE Select	ENSP00000262464.4:p.Asn1402Thr
ENST00000262464.8:c.4205A>C	ENSP00000262464.4:p.Asn1402Thr
ENST00000507835.5:c.755A>C	ENSP00000426839.1:p.Asn252Thr
ENST00000508053.5:c.4205A>C	ENSP00000424571.1:p.Asn1402Thr
ENST00000508989.5:c.4106A>C	ENSP00000425596.1:p.Asn1369Thr
ENST00000619499.4:c.4202A>C	ENSP00000482132.1:p.Asn1401Thr
NM_001999.3:c.4205A>C	NP_001990.2:p.Asn1402Thr
XM_017009228.2:c.4052A>C	XP_016864717.1:p.Asn1351Thr
NM_001999.4:c.4205A>C MANE Select	NP_001990.2:p.Asn1402Thr