Canonical Allele Identifier: CA3565116
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs765510086
ExAC: 5:174151918 G / T
gnomAD v4: 5-174724915-G-T
MyVariant Identifiers: chr5:g.174151918G>T (hg19) chr5:g.174724915G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724915G>T , CM000667.2:g.174724915G>T GRCh38
NC_000005.9:g.174151918G>T , CM000667.1:g.174151918G>T GRCh37
NC_000005.8:g.174084524G>T NCBI36
NG_008124.1:g.5344G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000239243.7:c.256G>T MANE Select ENSP00000239243.5:p.Ala86Ser
ENST00000239243.6:c.256G>T ENSP00000239243.5:p.Ala86Ser
ENST00000507785.2:c.256G>T ENSP00000427425.1:p.Ala86Ser
NM_002449.4:c.256G>T NP_002440.2:p.Ala86Ser
NM_001363626.1:c.256G>T NP_001350555.1:p.Ala86Ser
NM_002449.5:c.256G>T MANE Select NP_002440.2:p.Ala86Ser
NM_001363626.2:c.256G>T NP_001350555.1:p.Ala86Ser
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