Canonical Allele Identifier: CA1084606091

Gene: MSX2

Linked Data

• dbSNP Id: rs2048152
• gnomAD v3: 5-174725097-G-C
• gnomAD v4: 5-174725097-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174725097G>C , CM000667.2:g.174725097G>C	GRCh38
NC_000005.9:g.174152100G>C , CM000667.1:g.174152100G>C	GRCh37
NC_000005.8:g.174084706G>C	NCBI36
NG_008124.1:g.5526G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239243.7:c.379+59G>C MANE Select	ENSP00000239243.5:n.379+59G>C
ENST00000239243.6:c.379+59G>C	ENSP00000239243.5:n.379+59G>C
ENST00000507785.2:c.*3+30G>C	ENSP00000427425.1:n.*3+30G>C
NM_002449.4:c.379+59G>C	NP_002440.2:n.379+59G>C
NM_001363626.1:c.*3+30G>C	NP_001350555.1:n.*3+30G>C
NM_002449.5:c.379+59G>C MANE Select	NP_002440.2:n.379+59G>C
NM_001363626.2:c.*3+30G>C	NP_001350555.1:n.*3+30G>C