Canonical Allele Identifier: CA360767487

Gene: FBN2

Linked Data

• dbSNP Id: rs1751527278
• gnomAD v4: 5-128357371-G-A
• MyVariant Identifiers: chr5:g.127693063G>A (hg19) ; chr5:g.128357371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357371G>A , CM000667.2:g.128357371G>A	GRCh38
NC_000005.9:g.127693063G>A , CM000667.1:g.127693063G>A	GRCh37
NC_000005.8:g.127720962G>A	NCBI36
NG_008750.1:g.185673C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2579C>T MANE Select	ENSP00000262464.4:p.Pro860Leu
ENST00000262464.8:c.2579C>T	ENSP00000262464.4:p.Pro860Leu
ENST00000508053.5:c.2579C>T	ENSP00000424571.1:p.Pro860Leu
ENST00000508989.5:c.2480C>T	ENSP00000425596.1:p.Pro827Leu
ENST00000619499.4:c.2576C>T	ENSP00000482132.1:p.Pro859Leu
NM_001999.3:c.2579C>T	NP_001990.2:p.Pro860Leu
XM_017009228.2:c.2426C>T	XP_016864717.1:p.Pro809Leu
NM_001999.4:c.2579C>T MANE Select	NP_001990.2:p.Pro860Leu