Canonical Allele Identifier: CA360757416

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670919A>G (hg19) ; chr5:g.128335227A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335227A>G , CM000667.2:g.128335227A>G	GRCh38
NC_000005.9:g.127670919A>G , CM000667.1:g.127670919A>G	GRCh37
NC_000005.8:g.127698818A>G	NCBI36
NG_008750.1:g.207817T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.700T>C
ENST00000703785.1:n.781T>C
ENST00000262464.9:c.3916T>C MANE Select	ENSP00000262464.4:p.Tyr1306His
ENST00000262464.8:c.3916T>C	ENSP00000262464.4:p.Tyr1306His
ENST00000507835.5:c.466T>C	ENSP00000426839.1:p.Tyr156His
ENST00000508053.5:c.3916T>C	ENSP00000424571.1:p.Tyr1306His
ENST00000508989.5:c.3817T>C	ENSP00000425596.1:p.Tyr1273His
ENST00000619499.4:c.3913T>C	ENSP00000482132.1:p.Tyr1305His
NM_001999.3:c.3916T>C	NP_001990.2:p.Tyr1306His
XM_017009228.2:c.3763T>C	XP_016864717.1:p.Tyr1255His
NM_001999.4:c.3916T>C MANE Select	NP_001990.2:p.Tyr1306His