Canonical Allele Identifier: CA360754183

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666369T>G (hg19) ; chr5:g.128330677T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330677T>G , CM000667.2:g.128330677T>G	GRCh38
NC_000005.9:g.127666369T>G , CM000667.1:g.127666369T>G	GRCh37
NC_000005.8:g.127694268T>G	NCBI36
NG_008750.1:g.212367A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1025A>C
ENST00000703785.1:n.1106A>C
ENST00000262464.9:c.4241A>C MANE Select	ENSP00000262464.4:p.Asn1414Thr
ENST00000262464.8:c.4241A>C	ENSP00000262464.4:p.Asn1414Thr
ENST00000507835.5:c.791A>C	ENSP00000426839.1:p.Asn264Thr
ENST00000508053.5:c.4241A>C	ENSP00000424571.1:p.Asn1414Thr
ENST00000508989.5:c.4142A>C	ENSP00000425596.1:p.Asn1381Thr
ENST00000619499.4:c.4238A>C	ENSP00000482132.1:p.Asn1413Thr
NM_001999.3:c.4241A>C	NP_001990.2:p.Asn1414Thr
XM_017009228.2:c.4088A>C	XP_016864717.1:p.Asn1363Thr
NM_001999.4:c.4241A>C MANE Select	NP_001990.2:p.Asn1414Thr