Canonical Allele Identifier: CA127043670

Gene: FBN2

Linked Data

• dbSNP Id: rs905322490
• MyVariant Identifiers: chr5:g.127636897T>A (hg19) ; chr5:g.128301205T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301205T>A , CM000667.2:g.128301205T>A	GRCh38
NC_000005.9:g.127636897T>A , CM000667.1:g.127636897T>A	GRCh37
NC_000005.8:g.127664796T>A	NCBI36
NG_008750.1:g.241839A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+177A>T
ENST00000703785.1:n.2749+177A>T
ENST00000262464.9:c.6046+177A>T MANE Select	ENSP00000262464.4:n.6046+177A>T
ENST00000262464.8:c.6046+177A>T	ENSP00000262464.4:n.6046+177A>T
ENST00000508053.5:c.6046+177A>T	ENSP00000424571.1:n.6046+177A>T
ENST00000619499.4:c.6043+177A>T	ENSP00000482132.1:n.6043+177A>T
NM_001999.3:c.6046+177A>T	NP_001990.2:n.6046+177A>T
XM_017009228.2:c.5893+177A>T	XP_016864717.1:n.5893+177A>T
NM_001999.4:c.6046+177A>T MANE Select	NP_001990.2:n.6046+177A>T