Canonical Allele Identifier: CA2676572739
Gene: MSX2 HGNC NCBI

Linked Data

gnomAD v4: 5-174724689-G-GT
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724693dup , CM000667.2:g.174724693dup GRCh38
NC_000005.9:g.174151696dup , CM000667.1:g.174151696dup GRCh37
NC_000005.8:g.174084302dup NCBI36
NG_008124.1:g.5122dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.34dup MANE Select ENSP00000239243.5:p.Ser12PhefsTer?
ENST00000239243.6:c.34dup ENSP00000239243.5:p.Ser12PhefsTer?
ENST00000507785.2:c.34dup ENSP00000427425.1:p.Ser12PhefsTer?
NM_002449.4:c.34dup NP_002440.2:p.Ser12PhefsTer?
NM_001363626.1:c.34dup NP_001350555.1:p.Ser12PhefsTer?
NM_002449.5:c.34dup MANE Select NP_002440.2:p.Ser12PhefsTer?
NM_001363626.2:c.34dup NP_001350555.1:p.Ser12PhefsTer?
Search 100 bp 5'
Search 100 bp 3'