Canonical Allele Identifier: CA132700887
Gene: MSX2 HGNC NCBI

Linked Data

dbSNP Id: rs948679750
gnomAD v2: 5-174151598-T-C
gnomAD v3: 5-174724595-T-C
gnomAD v4: 5-174724595-T-C
MyVariant Identifiers: chr5:g.174151598T>C (hg19) chr5:g.174724595T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724595T>C , CM000667.2:g.174724595T>C GRCh38
NC_000005.9:g.174151598T>C , CM000667.1:g.174151598T>C GRCh37
NC_000005.8:g.174084204T>C NCBI36
NG_008124.1:g.5024T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.-65T>C MANE Select ENSP00000239243.5:n.-65T>C
ENST00000239243.6:c.-65T>C ENSP00000239243.5:n.-65T>C
NM_002449.4:c.-65T>C NP_002440.2:n.-65T>C
NM_001363626.1:c.-65T>C NP_001350555.1:n.-65T>C
NM_002449.5:c.-65T>C MANE Select NP_002440.2:n.-65T>C
NM_001363626.2:c.-65T>C NP_001350555.1:n.-65T>C
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