Canonical Allele Identifier: CA995710818

Gene: SPINT2

Linked Data

• dbSNP Id: rs1968662679
• gnomAD v3: 19-38287951-G-C
• gnomAD v4: 19-38287951-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38287951G>C , CM000681.2:g.38287951G>C	GRCh38
NC_000019.9:g.38778591G>C , CM000681.1:g.38778591G>C	GRCh37
NC_000019.8:g.43470431G>C	NCBI36
NG_013372.1:g.28494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.337+16G>C MANE Select	ENSP00000301244.5:n.337+16G>C
ENST00000301244.11:c.337+16G>C	ENSP00000301244.5:n.337+16G>C
ENST00000454580.7:c.166+16G>C	ENSP00000389788.2:n.166+16G>C
ENST00000587090.5:c.187+16G>C	ENSP00000466407.1:n.187+16G>C
ENST00000587516.5:c.278-1187G>C	ENSP00000465721.1:n.278-1187G>C
ENST00000590210.1:n.550G>C
NM_001166103.1:c.166+16G>C	NP_001159575.1:n.166+16G>C
NM_021102.3:c.337+16G>C	NP_066925.1:n.337+16G>C
NM_021102.4:c.337+16G>C MANE Select	NP_066925.1:n.337+16G>C
NM_001166103.2:c.166+16G>C	NP_001159575.1:n.166+16G>C