Canonical Allele Identifier: CA803648449

Gene: FBN2

Linked Data

• dbSNP Id: rs1432969652
• gnomAD v4: 5-128394973-A-G
• MyVariant Identifiers: chr5:g.127730666A>G (hg19) ; chr5:g.128394973A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128394973A>G , CM000667.2:g.128394973A>G	GRCh38
NC_000005.9:g.127730666A>G , CM000667.1:g.127730666A>G	GRCh37
NC_000005.8:g.127758565A>G	NCBI36
NG_008750.1:g.148070T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703787.1:n.938+149T>C
ENST00000262464.9:c.1231+149T>C MANE Select	ENSP00000262464.4:n.1231+149T>C
ENST00000262464.8:c.1231+149T>C	ENSP00000262464.4:n.1231+149T>C
ENST00000508053.5:c.1231+149T>C	ENSP00000424571.1:n.1231+149T>C
ENST00000508989.5:c.1132+149T>C	ENSP00000425596.1:n.1132+149T>C
ENST00000619499.4:c.1228+149T>C	ENSP00000482132.1:n.1228+149T>C
NM_001999.3:c.1231+149T>C	NP_001990.2:n.1231+149T>C
XM_017009228.2:c.1079-1605T>C	XP_016864717.1:n.1079-1605T>C
NM_001999.4:c.1231+149T>C MANE Select	NP_001990.2:n.1231+149T>C