Canonical Allele Identifier: CA2613335646

Gene: F2

Linked Data

• gnomAD v4: 11-46728183-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46728183T>C , CM000673.2:g.46728183T>C	GRCh38
NC_000011.9:g.46749733T>C , CM000673.1:g.46749733T>C	GRCh37
NC_000011.8:g.46706309T>C	NCBI36
NG_008953.1:g.13991T>C , LRG_551:g.13991T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311907.10:c.1298+20T>C MANE Select	ENSP00000308541.5:n.1298+20T>C
ENST00000311907.9:c.1298+20T>C	ENSP00000308541.5:n.1298+20T>C
ENST00000530231.5:c.1298+20T>C	ENSP00000433907.1:n.1298+20T>C
NM_000506.3:c.1298+20T>C	NP_000497.1:n.1298+20T>C
NM_000506.4:c.1298+20T>C , LRG_551t1:c.1298+20T>C	NP_000497.1:n.1298+20T>C
NM_001311257.1:c.1250+20T>C	NP_001298186.1:n.1250+20T>C
XR_428840.2:n.1342+20T>C
XR_428840.4:n.1333+20T>C
NM_000506.5:c.1298+20T>C MANE Select	NP_000497.1:n.1298+20T>C
NM_001311257.2:c.1250+20T>C	NP_001298186.1:n.1250+20T>C