Canonical Allele Identifier: CA405631754

Gene: SPINT2

Linked Data

• gnomAD v4: 19-38287917-G-T
• MyVariant Identifiers: chr19:g.38778557G>T (hg19) ; chr19:g.38287917G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38287917G>T , CM000681.2:g.38287917G>T	GRCh38
NC_000019.9:g.38778557G>T , CM000681.1:g.38778557G>T	GRCh37
NC_000019.8:g.43470397G>T	NCBI36
NG_013372.1:g.28460G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301244.12:c.319G>T MANE Select	ENSP00000301244.5:p.Asp107Tyr
ENST00000301244.11:c.319G>T	ENSP00000301244.5:p.Asp107Tyr
ENST00000454580.7:c.148G>T	ENSP00000389788.2:p.Asp50Tyr
ENST00000587090.5:c.169G>T	ENSP00000466407.1:p.Asp57Tyr
ENST00000587516.5:c.278-1221G>T	ENSP00000465721.1:n.278-1221G>T
ENST00000590210.1:n.516G>T
ENST00000592007.1:c.169G>T	ENSP00000465561.1:p.Asp57Tyr
NM_001166103.1:c.148G>T	NP_001159575.1:p.Asp50Tyr
NM_021102.3:c.319G>T	NP_066925.1:p.Asp107Tyr
NM_021102.4:c.319G>T MANE Select	NP_066925.1:p.Asp107Tyr
NM_001166103.2:c.148G>T	NP_001159575.1:p.Asp50Tyr