Canonical Allele Identifier: CA10215663

Gene: TMPRSS6

Linked Data

• ClinVar Variation Id: 2213060
• ClinVar RCV Id: RCV002656049
• dbSNP Id: rs756792962
• ExAC: 22:37471207 C / T
• gnomAD v2: 22-37471207-C-T
• gnomAD v3: 22-37075167-C-T
• gnomAD v4: 22-37075167-C-T
• MyVariant Identifiers: chr22:g.37471207C>T (hg19) ; chr22:g.37075167C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37075167C>T , CM000684.2:g.37075167C>T	GRCh38
NC_000022.10:g.37471207C>T , CM000684.1:g.37471207C>T	GRCh37
NC_000022.9:g.35801153C>T	NCBI36
NG_012856.2:g.39397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346753.9:c.1310G>A	ENSP00000334962.6:p.Arg437Gln
ENST00000406725.6:c.1310G>A	ENSP00000385453.1:p.Arg437Gln
ENST00000406856.7:c.1310G>A	ENSP00000384964.1:p.Arg437Gln
ENST00000676104.1:c.1310G>A MANE Select	ENSP00000501573.1:p.Arg437Gln
ENST00000346753.7:c.1337G>A	ENSP00000334962.5:p.Arg446Gln
ENST00000381792.6:c.1310G>A	ENSP00000371211.2:p.Arg437Gln
ENST00000406725.5:c.1310G>A	ENSP00000385453.1:p.Arg437Gln
ENST00000406856.5:c.1310G>A	ENSP00000384964.1:p.Arg437Gln
NM_001289000.1:c.1310G>A	NP_001275929.1:p.Arg437Gln
NM_001289001.1:c.1310G>A	NP_001275930.1:p.Arg437Gln
NM_153609.3:c.1337G>A	NP_705837.1:p.Arg446Gln
XM_006724162.1:c.1310G>A	XP_006724225.1:p.Arg437Gln
XM_006724163.2:c.1310G>A	XP_006724226.1:p.Arg437Gln
XM_011529987.1:c.1310G>A	XP_011528289.1:p.Arg437Gln
XM_011529988.1:c.1310G>A	XP_011528290.1:p.Arg437Gln
XM_011529989.1:c.878G>A	XP_011528291.1:p.Arg293Gln
XM_011529989.2:c.878G>A	XP_011528291.1:p.Arg293Gln
XM_024452167.1:c.1310G>A	XP_024307935.1:p.Arg437Gln
XM_024452168.1:c.1310G>A	XP_024307936.1:p.Arg437Gln
XM_024452169.1:c.1310G>A	XP_024307937.1:p.Arg437Gln
XM_024452170.1:c.1310G>A	XP_024307938.1:p.Arg437Gln
XM_024452171.1:c.1310G>A	XP_024307939.1:p.Arg437Gln
NM_001289000.2:c.1310G>A	NP_001275929.1:p.Arg437Gln
NM_001289001.2:c.1310G>A	NP_001275930.1:p.Arg437Gln
NM_001374504.1:c.1310G>A MANE Select	NP_001361433.1:p.Arg437Gln
NM_153609.4:c.1310G>A	NP_705837.2:p.Arg437Gln