Canonical Allele Identifier: CA946046914

Gene: FAR2

Linked Data

• dbSNP Id: rs1346778424
• gnomAD v3: 12-29282484-G-C
• gnomAD v4: 12-29282484-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.29282484G>C , CM000674.2:g.29282484G>C	GRCh38
NC_000012.11:g.29435417G>C , CM000674.1:g.29435417G>C	GRCh37
NC_000012.10:g.29326684G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000547411.2:n.437-10816G>C
ENST00000547759.2:c.190-10816G>C	ENSP00000447467.2:n.190-10816G>C
ENST00000551193.2:c.-91-25174G>C	ENSP00000449187.2:n.-91-25174G>C
ENST00000551451.6:c.190-10816G>C	ENSP00000450117.2:n.190-10816G>C
ENST00000685369.1:n.501-10816G>C
ENST00000686305.1:c.189+11846G>C	ENSP00000509385.1:n.189+11846G>C
ENST00000686316.1:n.598-10816G>C
ENST00000686419.1:c.190-10816G>C	ENSP00000509644.1:n.190-10816G>C
ENST00000686974.1:n.620-10816G>C
ENST00000689380.1:n.539-10816G>C
ENST00000690002.1:n.373-10816G>C
ENST00000690162.1:c.-102-10816G>C	ENSP00000510233.1:n.-102-10816G>C
ENST00000691273.1:c.190-10816G>C	ENSP00000508629.1:n.190-10816G>C
ENST00000691861.1:n.284-10816G>C
ENST00000692223.1:c.190-10816G>C	ENSP00000508868.1:n.190-10816G>C
ENST00000693163.1:c.189+11846G>C	ENSP00000508704.1:n.189+11846G>C
ENST00000536681.8:c.190-10816G>C MANE Select	ENSP00000443291.2:n.190-10816G>C
ENST00000182377.8:c.190-10816G>C	ENSP00000182377.4:n.190-10816G>C
ENST00000536681.7:c.190-10816G>C	ENSP00000443291.2:n.190-10816G>C
ENST00000547116.5:c.-102-10816G>C	ENSP00000449349.1:n.-102-10816G>C
ENST00000547411.1:n.382+11846G>C
ENST00000551451.5:c.-102-10816G>C	ENSP00000450117.1:n.-102-10816G>C
ENST00000552137.1:c.190-8932G>C	ENSP00000449436.1:n.190-8932G>C
NM_001271783.1:c.190-10816G>C	NP_001258712.1:n.190-10816G>C
NM_001271784.1:c.-102-10816G>C	NP_001258713.1:n.-102-10816G>C
NM_018099.4:c.190-10816G>C	NP_060569.3:n.190-10816G>C
NR_103860.1:n.1059-124C>G
XM_011520747.1:c.250-10816G>C	XP_011519049.1:n.250-10816G>C
XM_011520748.1:c.250-10816G>C	XP_011519050.1:n.250-10816G>C
XM_011520747.2:c.250-10816G>C	XP_011519049.1:n.250-10816G>C
XM_011520748.3:c.250-10816G>C	XP_011519050.1:n.250-10816G>C
XM_017019624.2:c.190-10816G>C	XP_016875113.1:n.190-10816G>C
XM_017019625.2:c.-92+11846G>C	XP_016875114.1:n.-92+11846G>C
NM_001271783.2:c.190-10816G>C MANE Select	NP_001258712.1:n.190-10816G>C
NM_001271784.2:c.-102-10816G>C	NP_001258713.1:n.-102-10816G>C
NM_018099.5:c.190-10816G>C	NP_060569.3:n.190-10816G>C