Canonical Allele Identifier: CA446312357

Gene: FBN2

Linked Data

• dbSNP Id: rs1751527199
• gnomAD v3: 5-128357370-T-C
• gnomAD v4: 5-128357370-T-C
• MyVariant Identifiers: chr5:g.127693062T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357370T>C , CM000667.2:g.128357370T>C	GRCh38
NC_000005.9:g.127693062T>C , CM000667.1:g.127693062T>C	GRCh37
NC_000005.8:g.127720961T>C	NCBI36
NG_008750.1:g.185674A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2580A>G MANE Select	ENSP00000262464.4:p.Pro860=
ENST00000262464.8:c.2580A>G	ENSP00000262464.4:p.Pro860=
ENST00000508053.5:c.2580A>G	ENSP00000424571.1:p.Pro860=
ENST00000508989.5:c.2481A>G	ENSP00000425596.1:p.Pro827=
ENST00000619499.4:c.2577A>G	ENSP00000482132.1:p.Pro859=
NM_001999.3:c.2580A>G	NP_001990.2:p.Pro860=
XM_017009228.2:c.2427A>G	XP_016864717.1:p.Pro809=
NM_001999.4:c.2580A>G MANE Select	NP_001990.2:p.Pro860=