Canonical Allele Identifier: CA12220079

Gene: SMOC2

Linked Data

• dbSNP Id: rs17551813
• gnomAD v2: 6-168941670-C-T
• gnomAD v3: 6-168540990-C-T
• gnomAD v4: 6-168540990-C-T
• MyVariant Identifiers: chr6:g.168941670C>T (hg19) ; chr6:g.168540990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.168540990C>T , CM000668.2:g.168540990C>T	GRCh38
NC_000006.11:g.168941670C>T , CM000668.1:g.168941670C>T	GRCh37
NC_000006.10:g.168684519C>T	NCBI36
NG_032781.1:g.104840C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356284.7:c.464-2635C>T MANE Select	ENSP00000348630.3:n.464-2635C>T
ENST00000354536.9:c.464-2635C>T	ENSP00000346537.5:n.464-2635C>T
ENST00000356284.6:c.464-2635C>T	ENSP00000348630.2:n.464-2635C>T
NM_001166412.1:c.464-2635C>T	NP_001159884.1:n.464-2635C>T
NM_022138.2:c.464-2635C>T	NP_071421.1:n.464-2635C>T
XM_011536065.1:c.464-2635C>T	XP_011534367.1:n.464-2635C>T
XM_011536066.1:c.464-2635C>T	XP_011534368.1:n.464-2635C>T
NM_001166412.2:c.464-2635C>T MANE Select	NP_001159884.1:n.464-2635C>T
NM_022138.3:c.464-2635C>T	NP_071421.1:n.464-2635C>T