Canonical Allele Identifier: CA9411429

Gene: SPINT2

Linked Data

• dbSNP Id: rs1555716974
• ExAC: 19:38778600 T / C
• gnomAD v2: 19-38778600-T-C
• gnomAD v3: 19-38287960-T-C
• gnomAD v4: 19-38287960-T-C
• MyVariant Identifiers: chr19:g.38778600T>C (hg19) ; chr19:g.38778600_38778601delinsCG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38287960T>C , CM000681.2:g.38287960T>C	GRCh38
NC_000019.9:g.38778600T>C , CM000681.1:g.38778600T>C	GRCh37
NC_000019.8:g.43470440T>C	NCBI36
NG_013372.1:g.28503T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.337+25T>C MANE Select	ENSP00000301244.5:n.337+25T>C
ENST00000301244.11:c.337+25T>C	ENSP00000301244.5:n.337+25T>C
ENST00000454580.7:c.166+25T>C	ENSP00000389788.2:n.166+25T>C
ENST00000587090.5:c.187+25T>C	ENSP00000466407.1:n.187+25T>C
ENST00000587516.5:c.278-1178T>C	ENSP00000465721.1:n.278-1178T>C
ENST00000590210.1:n.559T>C
NM_001166103.1:c.166+25T>C	NP_001159575.1:n.166+25T>C
NM_021102.3:c.337+25T>C	NP_066925.1:n.337+25T>C
NM_021102.4:c.337+25T>C MANE Select	NP_066925.1:n.337+25T>C
NM_001166103.2:c.166+25T>C	NP_001159575.1:n.166+25T>C