Canonical Allele Identifier: CA2982080
Gene: ANTXR2 HGNC NCBI

Linked Data

dbSNP Id: rs761810056
gnomAD v2: 4-80993695-G-A
gnomAD v3: 4-80072541-G-A
gnomAD v4: 4-80072541-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80072541G>A , CM000666.2:g.80072541G>A GRCh38
NC_000004.11:g.80993695G>A , CM000666.1:g.80993695G>A GRCh37
NC_000004.10:g.81212719G>A NCBI36
NG_015987.1:g.5783C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403729.7:c.20C>T MANE Select ENSP00000385575.2:p.Pro7Leu
ENST00000679571.1:c.-80+168C>T ENSP00000506307.1:n.-80+168C>T
ENST00000680913.1:c.20C>T ENSP00000505640.1:p.Pro7Leu
ENST00000681115.1:c.20C>T ENSP00000505618.1:p.Pro7Leu
ENST00000681710.1:c.-80+168C>T ENSP00000505865.1:n.-80+168C>T
ENST00000307333.7:c.20C>T ENSP00000306185.6:p.Pro7Leu
ENST00000346652.10:c.20C>T ENSP00000314883.6:p.Pro7Leu
ENST00000403729.6:c.20C>T ENSP00000385575.2:p.Pro7Leu
ENST00000404191.5:c.-80+854C>T ENSP00000384028.1:n.-80+854C>T
ENST00000506286.1:n.630-887C>T
ENST00000514959.1:n.248+6812C>T
NM_001145794.1:c.20C>T NP_001139266.1:p.Pro7Leu
NM_001286780.1:c.-80+854C>T NP_001273709.1:n.-80+854C>T
NM_001286781.1:c.-80+168C>T NP_001273710.1:n.-80+168C>T
NM_058172.5:c.20C>T NP_477520.2:p.Pro7Leu
XM_011531587.1:c.-80+854C>T XP_011529889.1:n.-80+854C>T
XM_011531587.3:c.-80+854C>T XP_011529889.1:n.-80+854C>T
NM_058172.6:c.20C>T MANE Select NP_477520.2:p.Pro7Leu
NM_001286780.2:c.-80+854C>T NP_001273709.1:n.-80+854C>T
NM_001286781.2:c.-80+168C>T NP_001273710.1:n.-80+168C>T
NM_001145794.2:c.20C>T NP_001139266.1:p.Pro7Leu