Canonical Allele Identifier: CA507219193

Gene: SPINT2

Linked Data

• gnomAD v4: 19-38287883-C-T
• MyVariant Identifiers: chr19:g.38778523C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38287883C>T , CM000681.2:g.38287883C>T	GRCh38
NC_000019.9:g.38778523C>T , CM000681.1:g.38778523C>T	GRCh37
NC_000019.8:g.43470363C>T	NCBI36
NG_013372.1:g.28426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.285C>T MANE Select	ENSP00000301244.5:p.Ala95=
ENST00000301244.11:c.285C>T	ENSP00000301244.5:p.Ala95=
ENST00000454580.7:c.114C>T	ENSP00000389788.2:p.Ala38=
ENST00000587090.5:c.135C>T	ENSP00000466407.1:p.Ala45=
ENST00000587516.5:c.278-1255C>T	ENSP00000465721.1:n.278-1255C>T
ENST00000590210.1:n.482C>T
ENST00000590510.5:c.135C>T	ENSP00000465301.1:p.Ala45=
ENST00000592007.1:c.135C>T	ENSP00000465561.1:p.Ala45=
NM_001166103.1:c.114C>T	NP_001159575.1:p.Ala38=
NM_021102.3:c.285C>T	NP_066925.1:p.Ala95=
NM_021102.4:c.285C>T MANE Select	NP_066925.1:p.Ala95=
NM_001166103.2:c.114C>T	NP_001159575.1:p.Ala38=