Canonical Allele Identifier: CA360759246

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338028-G-C
• MyVariant Identifiers: chr5:g.127673720G>C (hg19) ; chr5:g.128338028G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338028G>C , CM000667.2:g.128338028G>C	GRCh38
NC_000005.9:g.127673720G>C , CM000667.1:g.127673720G>C	GRCh37
NC_000005.8:g.127701619G>C	NCBI36
NG_008750.1:g.205016C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.351C>G
ENST00000703785.1:n.432C>G
ENST00000262464.9:c.3567C>G MANE Select	ENSP00000262464.4:p.His1189Gln
ENST00000262464.8:c.3567C>G	ENSP00000262464.4:p.His1189Gln
ENST00000507835.5:c.117C>G	ENSP00000426839.1:p.His39Gln
ENST00000508053.5:c.3567C>G	ENSP00000424571.1:p.His1189Gln
ENST00000508989.5:c.3468C>G	ENSP00000425596.1:p.His1156Gln
ENST00000619499.4:c.3564C>G	ENSP00000482132.1:p.His1188Gln
NM_001999.3:c.3567C>G	NP_001990.2:p.His1189Gln
XM_017009228.2:c.3414C>G	XP_016864717.1:p.His1138Gln
NM_001999.4:c.3567C>G MANE Select	NP_001990.2:p.His1189Gln