Canonical Allele Identifier: CA360757960

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2706561
• ClinVar RCV Id: RCV003525695
• gnomAD v4: 5-128335487-T-G
• MyVariant Identifiers: chr5:g.127671179T>G (hg19) ; chr5:g.128335487T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335487T>G , CM000667.2:g.128335487T>G	GRCh38
NC_000005.9:g.127671179T>G , CM000667.1:g.127671179T>G	GRCh37
NC_000005.8:g.127699078T>G	NCBI36
NG_008750.1:g.207557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.599A>C
ENST00000703785.1:n.680A>C
ENST00000262464.9:c.3815A>C MANE Select	ENSP00000262464.4:p.Tyr1272Ser
ENST00000262464.8:c.3815A>C	ENSP00000262464.4:p.Tyr1272Ser
ENST00000507835.5:c.365A>C	ENSP00000426839.1:p.Tyr122Ser
ENST00000508053.5:c.3815A>C	ENSP00000424571.1:p.Tyr1272Ser
ENST00000508989.5:c.3716A>C	ENSP00000425596.1:p.Tyr1239Ser
ENST00000619499.4:c.3812A>C	ENSP00000482132.1:p.Tyr1271Ser
NM_001999.3:c.3815A>C	NP_001990.2:p.Tyr1272Ser
XM_017009228.2:c.3662A>C	XP_016864717.1:p.Tyr1221Ser
NM_001999.4:c.3815A>C MANE Select	NP_001990.2:p.Tyr1272Ser