Canonical Allele Identifier: CA3565137

Gene: MSX2

Linked Data

• dbSNP Id: rs751668827
• ExAC: 5:174151995 T / C
• gnomAD v2: 5-174151995-T-C
• gnomAD v4: 5-174724992-T-C
• MyVariant Identifiers: chr5:g.174151995T>C (hg19) ; chr5:g.174724992T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174724992T>C , CM000667.2:g.174724992T>C	GRCh38
NC_000005.9:g.174151995T>C , CM000667.1:g.174151995T>C	GRCh37
NC_000005.8:g.174084601T>C	NCBI36
NG_008124.1:g.5421T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.333T>C MANE Select	ENSP00000239243.5:p.Asp111=
ENST00000239243.6:c.333T>C	ENSP00000239243.5:p.Asp111=
ENST00000507785.2:c.333T>C	ENSP00000427425.1:p.Asp111=
NM_002449.4:c.333T>C	NP_002440.2:p.Asp111=
NM_001363626.1:c.333T>C	NP_001350555.1:p.Asp111=
NM_002449.5:c.333T>C MANE Select	NP_002440.2:p.Asp111=
NM_001363626.2:c.333T>C	NP_001350555.1:p.Asp111=