Canonical Allele Identifier: CA362229070
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs745950729
gnomAD v2: 5-174151739-C-G
MyVariant Identifiers: chr5:g.174151739C>G (hg19) chr5:g.174724736C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724736C>G , CM000667.2:g.174724736C>G GRCh38
NC_000005.9:g.174151739C>G , CM000667.1:g.174151739C>G GRCh37
NC_000005.8:g.174084345C>G NCBI36
NG_008124.1:g.5165C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.77C>G MANE Select ENSP00000239243.5:p.Pro26Arg
ENST00000239243.6:c.77C>G ENSP00000239243.5:p.Pro26Arg
ENST00000507785.2:c.77C>G ENSP00000427425.1:p.Pro26Arg
NM_002449.4:c.77C>G NP_002440.2:p.Pro26Arg
NM_001363626.1:c.77C>G NP_001350555.1:p.Pro26Arg
NM_002449.5:c.77C>G MANE Select NP_002440.2:p.Pro26Arg
NM_001363626.2:c.77C>G NP_001350555.1:p.Pro26Arg
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