Canonical Allele Identifier: CA10215238

Gene: TMPRSS6

Linked Data

• ClinVar Variation Id: 520952
• ClinVar RCV Id: RCV000623737
• dbSNP Id: rs764514331
• ExAC: 22:37462182 A / G
• gnomAD v2: 22-37462182-A-G
• gnomAD v3: 22-37066142-A-G
• gnomAD v4: 22-37066142-A-G
• MyVariant Identifiers: chr22:g.37462182A>G (hg19) ; chr22:g.37066142A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37066142A>G , CM000684.2:g.37066142A>G	GRCh38
NC_000022.10:g.37462182A>G , CM000684.1:g.37462182A>G	GRCh37
NC_000022.9:g.35792128A>G	NCBI36
NG_012856.2:g.48422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346753.9:c.2347T>C	ENSP00000334962.6:p.Tyr783His
ENST00000406725.6:c.2347T>C	ENSP00000385453.1:p.Tyr783His
ENST00000406856.7:c.2413T>C	ENSP00000384964.1:p.Tyr805His
ENST00000676104.1:c.2347T>C MANE Select	ENSP00000501573.1:p.Tyr783His
ENST00000346753.7:c.2374T>C	ENSP00000334962.5:p.Tyr792His
ENST00000381792.6:c.2413T>C	ENSP00000371211.2:p.Tyr805His
ENST00000406725.5:c.2347T>C	ENSP00000385453.1:p.Tyr783His
ENST00000406856.5:c.2413T>C	ENSP00000384964.1:p.Tyr805His
NM_001289000.1:c.2413T>C	NP_001275929.1:p.Tyr805His
NM_001289001.1:c.2347T>C	NP_001275930.1:p.Tyr783His
NM_153609.3:c.2374T>C	NP_705837.1:p.Tyr792His
XM_006724162.1:c.2347T>C	XP_006724225.1:p.Tyr783His
XM_006724163.2:c.2347T>C	XP_006724226.1:p.Tyr783His
XM_011529987.1:c.2413T>C	XP_011528289.1:p.Tyr805His
XM_011529988.1:c.2413T>C	XP_011528290.1:p.Tyr805His
XM_011529989.1:c.1981T>C	XP_011528291.1:p.Tyr661His
XM_011529989.2:c.1981T>C	XP_011528291.1:p.Tyr661His
XM_024452167.1:c.2413T>C	XP_024307935.1:p.Tyr805His
XM_024452168.1:c.2413T>C	XP_024307936.1:p.Tyr805His
XM_024452169.1:c.2413T>C	XP_024307937.1:p.Tyr805His
XM_024452170.1:c.2347T>C	XP_024307938.1:p.Tyr783His
XM_024452171.1:c.2347T>C	XP_024307939.1:p.Tyr783His
NM_001289000.2:c.2413T>C	NP_001275929.1:p.Tyr805His
NM_001289001.2:c.2347T>C	NP_001275930.1:p.Tyr783His
NM_001374504.1:c.2347T>C MANE Select	NP_001361433.1:p.Tyr783His
NM_153609.4:c.2347T>C	NP_705837.2:p.Tyr783His