Canonical Allele Identifier: CA360739693

Gene: FBN2

Linked Data

• dbSNP Id: rs1184318904
• gnomAD v2: 5-127640651-A-G
• gnomAD v4: 5-128304959-A-G
• MyVariant Identifiers: chr5:g.127640651A>G (hg19) ; chr5:g.128304959A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304959A>G , CM000667.2:g.128304959A>G	GRCh38
NC_000005.9:g.127640651A>G , CM000667.1:g.127640651A>G	GRCh37
NC_000005.8:g.127668550A>G	NCBI36
NG_008750.1:g.238085T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2582T>C
ENST00000703785.1:n.2501T>C
ENST00000262464.9:c.5798T>C MANE Select	ENSP00000262464.4:p.Met1933Thr
ENST00000262464.8:c.5798T>C	ENSP00000262464.4:p.Met1933Thr
ENST00000508053.5:c.5798T>C	ENSP00000424571.1:p.Met1933Thr
ENST00000619499.4:c.5795T>C	ENSP00000482132.1:p.Met1932Thr
NM_001999.3:c.5798T>C	NP_001990.2:p.Met1933Thr
XM_017009228.2:c.5645T>C	XP_016864717.1:p.Met1882Thr
NM_001999.4:c.5798T>C MANE Select	NP_001990.2:p.Met1933Thr