Canonical Allele Identifier: CA351531600

Gene: FBLN2

Linked Data

• MyVariant Identifiers: chr3:g.13670493C>G (hg19) ; chr3:g.13628993C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.13628993C>G , CM000665.2:g.13628993C>G	GRCh38
NC_000003.11:g.13670493C>G , CM000665.1:g.13670493C>G	GRCh37
NC_000003.10:g.13645494C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404922.8:c.2658C>G MANE Select	ENSP00000384169.3:p.Asn886Lys
ENST00000295760.11:c.2517C>G	ENSP00000295760.7:p.Asn839Lys
ENST00000404922.7:c.2658C>G	ENSP00000384169.3:p.Asn886Lys
ENST00000492059.5:c.2658C>G	ENSP00000420042.1:p.Asn886Lys
NM_001004019.1:c.2658C>G	NP_001004019.1:p.Asn886Lys
NM_001165035.1:c.2658C>G	NP_001158507.1:p.Asn886Lys
NM_001998.2:c.2517C>G	NP_001989.2:p.Asn839Lys
XM_006713026.2:c.2658C>G	XP_006713089.1:p.Asn886Lys
NM_001004019.2:c.2658C>G MANE Select	NP_001004019.1:p.Asn886Lys
NM_001165035.2:c.2658C>G	NP_001158507.1:p.Asn886Lys
NM_001998.3:c.2517C>G	NP_001989.2:p.Asn839Lys