Canonical Allele Identifier: CA3565235
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs774723279
ExAC: 5:174156397 G / A
gnomAD v2: 5-174156397-G-A
gnomAD v3: 5-174729394-G-A
gnomAD v4: 5-174729394-G-A
MyVariant Identifiers: chr5:g.174156397G>A (hg19) chr5:g.174729394G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174729394G>A , CM000667.2:g.174729394G>A GRCh38
NC_000005.9:g.174156397G>A , CM000667.1:g.174156397G>A GRCh37
NC_000005.8:g.174089003G>A NCBI36
NG_008124.1:g.9823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.615G>A MANE Select ENSP00000239243.5:p.Leu205=
ENST00000239243.6:c.615G>A ENSP00000239243.5:p.Leu205=
ENST00000507785.2:c.*239G>A ENSP00000427425.1:n.*239G>A
NM_002449.4:c.615G>A NP_002440.2:p.Leu205=
NM_001363626.1:c.*239G>A NP_001350555.1:n.*239G>A
NM_002449.5:c.615G>A MANE Select NP_002440.2:p.Leu205=
NM_001363626.2:c.*239G>A NP_001350555.1:n.*239G>A
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