Canonical Allele Identifier: CA360767548

Gene: FBN2

Linked Data

• dbSNP Id: rs1434408339
• MyVariant Identifiers: chr5:g.127693088C>G (hg19) ; chr5:g.128357396C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357396C>G , CM000667.2:g.128357396C>G	GRCh38
NC_000005.9:g.127693088C>G , CM000667.1:g.127693088C>G	GRCh37
NC_000005.8:g.127720987C>G	NCBI36
NG_008750.1:g.185648G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2555-1G>C MANE Select	ENSP00000262464.4:n.2555-1G>C
ENST00000262464.8:c.2555-1G>C	ENSP00000262464.4:n.2555-1G>C
ENST00000508053.5:c.2555-1G>C	ENSP00000424571.1:n.2555-1G>C
ENST00000508989.5:c.2456-1G>C	ENSP00000425596.1:n.2456-1G>C
ENST00000619499.4:c.2552-1G>C	ENSP00000482132.1:n.2552-1G>C
NM_001999.3:c.2555-1G>C	NP_001990.2:n.2555-1G>C
XM_017009228.2:c.2402-1G>C	XP_016864717.1:n.2402-1G>C
NM_001999.4:c.2555-1G>C MANE Select	NP_001990.2:n.2555-1G>C