Canonical Allele Identifier: CA360754156

Gene: FBN2

Linked Data

• COSMIC: COSM6101618 ; COSM6101619
• MyVariant Identifiers: chr5:g.127666358G>A (hg19) ; chr5:g.128330666G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330666G>A , CM000667.2:g.128330666G>A	GRCh38
NC_000005.9:g.127666358G>A , CM000667.1:g.127666358G>A	GRCh37
NC_000005.8:g.127694257G>A	NCBI36
NG_008750.1:g.212378C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1036C>T
ENST00000703785.1:n.1117C>T
ENST00000262464.9:c.4252C>T MANE Select	ENSP00000262464.4:p.Gln1418Ter
ENST00000262464.8:c.4252C>T	ENSP00000262464.4:p.Gln1418Ter
ENST00000507835.5:c.802C>T	ENSP00000426839.1:p.Gln268Ter
ENST00000508053.5:c.4252C>T	ENSP00000424571.1:p.Gln1418Ter
ENST00000508989.5:c.4153C>T	ENSP00000425596.1:p.Gln1385Ter
ENST00000619499.4:c.4249C>T	ENSP00000482132.1:p.Gln1417Ter
NM_001999.3:c.4252C>T	NP_001990.2:p.Gln1418Ter
XM_017009228.2:c.4099C>T	XP_016864717.1:p.Gln1367Ter
NM_001999.4:c.4252C>T MANE Select	NP_001990.2:p.Gln1418Ter