Canonical Allele Identifier: CA632859240

Gene: SPINT2

Linked Data

• dbSNP Id: rs1394149872
• gnomAD v2: 19-38778786-G-T
• gnomAD v3: 19-38288146-G-T
• gnomAD v4: 19-38288146-G-T
• MyVariant Identifiers: chr19:g.38778786G>T (hg19) ; chr19:g.38288146G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38288146G>T , CM000681.2:g.38288146G>T	GRCh38
NC_000019.9:g.38778786G>T , CM000681.1:g.38778786G>T	GRCh37
NC_000019.8:g.43470626G>T	NCBI36
NG_013372.1:g.28689G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.337+211G>T MANE Select	ENSP00000301244.5:n.337+211G>T
ENST00000301244.11:c.337+211G>T	ENSP00000301244.5:n.337+211G>T
ENST00000454580.7:c.166+211G>T	ENSP00000389788.2:n.166+211G>T
ENST00000587090.5:c.187+211G>T	ENSP00000466407.1:n.187+211G>T
ENST00000587516.5:c.278-992G>T	ENSP00000465721.1:n.278-992G>T
NM_001166103.1:c.166+211G>T	NP_001159575.1:n.166+211G>T
NM_021102.3:c.337+211G>T	NP_066925.1:n.337+211G>T
NM_021102.4:c.337+211G>T MANE Select	NP_066925.1:n.337+211G>T
NM_001166103.2:c.166+211G>T	NP_001159575.1:n.166+211G>T