Canonical Allele Identifier: CA357474698

Gene: ANTXR2

Linked Data

• gnomAD v4: 4-80072548-G-A
• MyVariant Identifiers: chr4:g.80993702G>A (hg19) ; chr4:g.80072548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80072548G>A , CM000666.2:g.80072548G>A	GRCh38
NC_000004.11:g.80993702G>A , CM000666.1:g.80993702G>A	GRCh37
NC_000004.10:g.81212726G>A	NCBI36
NG_015987.1:g.5776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.13C>T MANE Select	ENSP00000385575.2:p.Arg5Trp
ENST00000679571.1:c.-80+161C>T	ENSP00000506307.1:n.-80+161C>T
ENST00000680913.1:c.13C>T	ENSP00000505640.1:p.Arg5Trp
ENST00000681115.1:c.13C>T	ENSP00000505618.1:p.Arg5Trp
ENST00000681710.1:c.-80+161C>T	ENSP00000505865.1:n.-80+161C>T
ENST00000307333.7:c.13C>T	ENSP00000306185.6:p.Arg5Trp
ENST00000346652.10:c.13C>T	ENSP00000314883.6:p.Arg5Trp
ENST00000403729.6:c.13C>T	ENSP00000385575.2:p.Arg5Trp
ENST00000404191.5:c.-80+847C>T	ENSP00000384028.1:n.-80+847C>T
ENST00000506286.1:n.630-894C>T
ENST00000514959.1:n.248+6805C>T
NM_001145794.1:c.13C>T	NP_001139266.1:p.Arg5Trp
NM_001286780.1:c.-80+847C>T	NP_001273709.1:n.-80+847C>T
NM_001286781.1:c.-80+161C>T	NP_001273710.1:n.-80+161C>T
NM_058172.5:c.13C>T	NP_477520.2:p.Arg5Trp
XM_011531587.1:c.-80+847C>T	XP_011529889.1:n.-80+847C>T
XM_011531587.3:c.-80+847C>T	XP_011529889.1:n.-80+847C>T
NM_058172.6:c.13C>T MANE Select	NP_477520.2:p.Arg5Trp
NM_001286780.2:c.-80+847C>T	NP_001273709.1:n.-80+847C>T
NM_001286781.2:c.-80+161C>T	NP_001273710.1:n.-80+161C>T
NM_001145794.2:c.13C>T	NP_001139266.1:p.Arg5Trp