Canonical Allele Identifier: CA360740056

Gene: FBN2

Linked Data

• gnomAD v4: 5-128305058-G-C
• MyVariant Identifiers: chr5:g.127640750G>C (hg19) ; chr5:g.128305058G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305058G>C , CM000667.2:g.128305058G>C	GRCh38
NC_000005.9:g.127640750G>C , CM000667.1:g.127640750G>C	GRCh37
NC_000005.8:g.127668649G>C	NCBI36
NG_008750.1:g.237986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2483C>G
ENST00000703785.1:n.2402C>G
ENST00000262464.9:c.5699C>G MANE Select	ENSP00000262464.4:p.Pro1900Arg
ENST00000262464.8:c.5699C>G	ENSP00000262464.4:p.Pro1900Arg
ENST00000508053.5:c.5699C>G	ENSP00000424571.1:p.Pro1900Arg
ENST00000619499.4:c.5696C>G	ENSP00000482132.1:p.Pro1899Arg
NM_001999.3:c.5699C>G	NP_001990.2:p.Pro1900Arg
XM_017009228.2:c.5546C>G	XP_016864717.1:p.Pro1849Arg
NM_001999.4:c.5699C>G MANE Select	NP_001990.2:p.Pro1900Arg