Canonical Allele Identifier: CA127043657

Gene: FBN2

Linked Data

• dbSNP Id: rs936861193
• MyVariant Identifiers: chr5:g.127636893C>T (hg19) ; chr5:g.128301201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301201C>T , CM000667.2:g.128301201C>T	GRCh38
NC_000005.9:g.127636893C>T , CM000667.1:g.127636893C>T	GRCh37
NC_000005.8:g.127664792C>T	NCBI36
NG_008750.1:g.241843G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+181G>A
ENST00000703785.1:n.2749+181G>A
ENST00000262464.9:c.6046+181G>A MANE Select	ENSP00000262464.4:n.6046+181G>A
ENST00000262464.8:c.6046+181G>A	ENSP00000262464.4:n.6046+181G>A
ENST00000508053.5:c.6046+181G>A	ENSP00000424571.1:n.6046+181G>A
ENST00000619499.4:c.6043+181G>A	ENSP00000482132.1:n.6043+181G>A
NM_001999.3:c.6046+181G>A	NP_001990.2:n.6046+181G>A
XM_017009228.2:c.5893+181G>A	XP_016864717.1:n.5893+181G>A
NM_001999.4:c.6046+181G>A MANE Select	NP_001990.2:n.6046+181G>A