Canonical Allele Identifier: CA127013824

Gene: FBN2

Linked Data

• dbSNP Id: rs1029936357
• gnomAD v2: 5-127671177-C-T
• gnomAD v4: 5-128335485-C-T
• MyVariant Identifiers: chr5:g.127671177C>T (hg19) ; chr5:g.128335485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335485C>T , CM000667.2:g.128335485C>T	GRCh38
NC_000005.9:g.127671177C>T , CM000667.1:g.127671177C>T	GRCh37
NC_000005.8:g.127699076C>T	NCBI36
NG_008750.1:g.207559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.601G>A
ENST00000703785.1:n.682G>A
ENST00000262464.9:c.3817G>A MANE Select	ENSP00000262464.4:p.Ala1273Thr
ENST00000262464.8:c.3817G>A	ENSP00000262464.4:p.Ala1273Thr
ENST00000507835.5:c.367G>A	ENSP00000426839.1:p.Ala123Thr
ENST00000508053.5:c.3817G>A	ENSP00000424571.1:p.Ala1273Thr
ENST00000508989.5:c.3718G>A	ENSP00000425596.1:p.Ala1240Thr
ENST00000619499.4:c.3814G>A	ENSP00000482132.1:p.Ala1272Thr
NM_001999.3:c.3817G>A	NP_001990.2:p.Ala1273Thr
XM_017009228.2:c.3664G>A	XP_016864717.1:p.Ala1222Thr
NM_001999.4:c.3817G>A MANE Select	NP_001990.2:p.Ala1273Thr