Canonical Allele Identifier: CA507219264

Gene: SPINT2

Linked Data

• gnomAD v4: 19-38287934-T-C
• MyVariant Identifiers: chr19:g.38778574T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38287934T>C , CM000681.2:g.38287934T>C	GRCh38
NC_000019.9:g.38778574T>C , CM000681.1:g.38778574T>C	GRCh37
NC_000019.8:g.43470414T>C	NCBI36
NG_013372.1:g.28477T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.336T>C MANE Select	ENSP00000301244.5:p.Ser112=
ENST00000301244.11:c.336T>C	ENSP00000301244.5:p.Ser112=
ENST00000454580.7:c.165T>C	ENSP00000389788.2:p.Ser55=
ENST00000587090.5:c.186T>C	ENSP00000466407.1:p.Ser62=
ENST00000587516.5:c.278-1204T>C	ENSP00000465721.1:n.278-1204T>C
ENST00000590210.1:n.533T>C
ENST00000592007.1:c.186T>C	ENSP00000465561.1:p.Ser62=
NM_001166103.1:c.165T>C	NP_001159575.1:p.Ser55=
NM_021102.3:c.336T>C	NP_066925.1:p.Ser112=
NM_021102.4:c.336T>C MANE Select	NP_066925.1:p.Ser112=
NM_001166103.2:c.165T>C	NP_001159575.1:p.Ser55=