Canonical Allele Identifier: CA362229721
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs1302452028
gnomAD v2: 5-174152056-G-T
gnomAD v4: 5-174725053-G-T
MyVariant Identifiers: chr5:g.174152056G>T (hg19) chr5:g.174725053G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174725053G>T , CM000667.2:g.174725053G>T GRCh38
NC_000005.9:g.174152056G>T , CM000667.1:g.174152056G>T GRCh37
NC_000005.8:g.174084662G>T NCBI36
NG_008124.1:g.5482G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.379+15G>T MANE Select ENSP00000239243.5:n.379+15G>T
ENST00000239243.6:c.379+15G>T ENSP00000239243.5:n.379+15G>T
ENST00000507785.2:c.394G>T ENSP00000427425.1:p.Gly132Trp
NM_002449.4:c.379+15G>T NP_002440.2:n.379+15G>T
NM_001363626.1:c.394G>T NP_001350555.1:p.Gly132Trp
NM_002449.5:c.379+15G>T MANE Select NP_002440.2:n.379+15G>T
NM_001363626.2:c.394G>T NP_001350555.1:p.Gly132Trp
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