Canonical Allele Identifier: CA3565132
Gene: MSX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 906444
ClinVar RCV Id: RCV001155621 RCV001155622
dbSNP Id: rs760574628
ExAC: 5:174151977 G / C
gnomAD v2: 5-174151977-G-C
gnomAD v3: 5-174724974-G-C
gnomAD v4: 5-174724974-G-C
MyVariant Identifiers: chr5:g.174151977G>C (hg19) chr5:g.174724974G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174724974G>C , CM000667.2:g.174724974G>C GRCh38
NC_000005.9:g.174151977G>C , CM000667.1:g.174151977G>C GRCh37
NC_000005.8:g.174084583G>C NCBI36
NG_008124.1:g.5403G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239243.7:c.315G>C MANE Select ENSP00000239243.5:p.Lys105Asn
ENST00000239243.6:c.315G>C ENSP00000239243.5:p.Lys105Asn
ENST00000507785.2:c.315G>C ENSP00000427425.1:p.Lys105Asn
NM_002449.4:c.315G>C NP_002440.2:p.Lys105Asn
NM_001363626.1:c.315G>C NP_001350555.1:p.Lys105Asn
NM_002449.5:c.315G>C MANE Select NP_002440.2:p.Lys105Asn
NM_001363626.2:c.315G>C NP_001350555.1:p.Lys105Asn
Search 100 bp 5'
Search 100 bp 3'