Canonical Allele Identifier: CA2604174597
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs2126936921

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128361675C>G , CM000667.2:g.128361675C>G GRCh38
NC_000005.9:g.127697368C>G , CM000667.1:g.127697368C>G GRCh37
NC_000005.8:g.127725267C>G NCBI36
NG_008750.1:g.181368G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.2554+48G>C MANE Select ENSP00000262464.4:n.2554+48G>C
ENST00000262464.8:c.2554+48G>C ENSP00000262464.4:n.2554+48G>C
ENST00000508053.5:c.2554+48G>C ENSP00000424571.1:n.2554+48G>C
ENST00000508989.5:c.2455+48G>C ENSP00000425596.1:n.2455+48G>C
ENST00000619499.4:c.2551+48G>C ENSP00000482132.1:n.2551+48G>C
NM_001999.3:c.2554+48G>C NP_001990.2:n.2554+48G>C
XM_017009228.2:c.2401+48G>C XP_016864717.1:n.2401+48G>C
NM_001999.4:c.2554+48G>C MANE Select NP_001990.2:n.2554+48G>C