Canonical Allele Identifier: CA357471481

Gene: ANTXR2

Linked Data

• gnomAD v4: 4-79983922-A-G
• MyVariant Identifiers: chr4:g.80905076A>G (hg19) ; chr4:g.79983922A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.79983922A>G , CM000666.2:g.79983922A>G	GRCh38
NC_000004.11:g.80905076A>G , CM000666.1:g.80905076A>G	GRCh37
NC_000004.10:g.81124100A>G	NCBI36
NG_015987.1:g.94402T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.1135T>C MANE Select	ENSP00000385575.2:p.Ser379Pro
ENST00000679571.1:c.904T>C	ENSP00000506307.1:p.Ser302Pro
ENST00000680913.1:c.1135T>C	ENSP00000505640.1:p.Ser379Pro
ENST00000681115.1:c.1135T>C	ENSP00000505618.1:p.Ser379Pro
ENST00000681710.1:c.904T>C	ENSP00000505865.1:p.Ser302Pro
ENST00000307333.7:c.1135T>C	ENSP00000306185.6:p.Ser379Pro
ENST00000346652.10:c.826T>C	ENSP00000314883.6:p.Ser276Pro
ENST00000403729.6:c.1135T>C	ENSP00000385575.2:p.Ser379Pro
ENST00000404191.5:c.904T>C	ENSP00000384028.1:p.Ser302Pro
ENST00000449651.5:c.*285T>C	ENSP00000413700.1:n.*285T>C
NM_001145794.1:c.1135T>C	NP_001139266.1:p.Ser379Pro
NM_001286780.1:c.904T>C	NP_001273709.1:p.Ser302Pro
NM_001286781.1:c.904T>C	NP_001273710.1:p.Ser302Pro
NM_058172.5:c.1135T>C	NP_477520.2:p.Ser379Pro
XM_011531587.1:c.904T>C	XP_011529889.1:p.Ser302Pro
XM_011531587.3:c.904T>C	XP_011529889.1:p.Ser302Pro
NM_058172.6:c.1135T>C MANE Select	NP_477520.2:p.Ser379Pro
NM_001286780.2:c.904T>C	NP_001273709.1:p.Ser302Pro
NM_001286781.2:c.904T>C	NP_001273710.1:p.Ser302Pro
NM_001145794.2:c.1135T>C	NP_001139266.1:p.Ser379Pro