Canonical Allele Identifier: CA447978918
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs1157016749
gnomAD v2: 5-174156355-G-A
gnomAD v4: 5-174729352-G-A
MyVariant Identifiers: chr5:g.174156355G>A (hg19) chr5:g.174729352G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729352G>A , CM000667.2:g.174729352G>A GRCh38
NC_000005.9:g.174156355G>A , CM000667.1:g.174156355G>A GRCh37
NC_000005.8:g.174088961G>A NCBI36
NG_008124.1:g.9781G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.573G>A MANE Select ENSP00000239243.5:p.Gln191=
ENST00000239243.6:c.573G>A ENSP00000239243.5:p.Gln191=
ENST00000507785.2:c.*197G>A ENSP00000427425.1:n.*197G>A
NM_002449.4:c.573G>A NP_002440.2:p.Gln191=
NM_001363626.1:c.*197G>A NP_001350555.1:n.*197G>A
NM_002449.5:c.573G>A MANE Select NP_002440.2:p.Gln191=
NM_001363626.2:c.*197G>A NP_001350555.1:n.*197G>A
Search 100 bp 5'
Search 100 bp 3'