Canonical Allele Identifier: CA100495439

Gene: ANTXR2

Linked Data

• dbSNP Id: rs546398867
• gnomAD v4: 4-79984744-T-C
• MyVariant Identifiers: chr4:g.80905898T>C (hg19) ; chr4:g.79984744T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.79984744T>C , CM000666.2:g.79984744T>C	GRCh38
NC_000004.11:g.80905898T>C , CM000666.1:g.80905898T>C	GRCh37
NC_000004.10:g.81124922T>C	NCBI36
NG_015987.1:g.93580A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000403729.7:c.1086+75A>G MANE Select	ENSP00000385575.2:n.1086+75A>G
ENST00000679571.1:c.855+75A>G	ENSP00000506307.1:n.855+75A>G
ENST00000680913.1:c.1086+75A>G	ENSP00000505640.1:n.1086+75A>G
ENST00000681115.1:c.1086+75A>G	ENSP00000505618.1:n.1086+75A>G
ENST00000681710.1:c.855+75A>G	ENSP00000505865.1:n.855+75A>G
ENST00000307333.7:c.1086+75A>G	ENSP00000306185.6:n.1086+75A>G
ENST00000346652.10:c.777+75A>G	ENSP00000314883.6:n.777+75A>G
ENST00000403729.6:c.1086+75A>G	ENSP00000385575.2:n.1086+75A>G
ENST00000404191.5:c.855+75A>G	ENSP00000384028.1:n.855+75A>G
ENST00000449651.5:c.*236+75A>G	ENSP00000413700.1:n.*236+75A>G
NM_001145794.1:c.1086+75A>G	NP_001139266.1:n.1086+75A>G
NM_001286780.1:c.855+75A>G	NP_001273709.1:n.855+75A>G
NM_001286781.1:c.855+75A>G	NP_001273710.1:n.855+75A>G
NM_058172.5:c.1086+75A>G	NP_477520.2:n.1086+75A>G
XM_011531587.1:c.855+75A>G	XP_011529889.1:n.855+75A>G
XM_011531587.3:c.855+75A>G	XP_011529889.1:n.855+75A>G
NM_058172.6:c.1086+75A>G MANE Select	NP_477520.2:n.1086+75A>G
NM_001286780.2:c.855+75A>G	NP_001273709.1:n.855+75A>G
NM_001286781.2:c.855+75A>G	NP_001273710.1:n.855+75A>G
NM_001145794.2:c.1086+75A>G	NP_001139266.1:n.1086+75A>G