Canonical Allele Identifier: CA400601644

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1567762963
• gnomAD v4: 17-63837541-C-G
• MyVariant Identifiers: chr17:g.61914901C>G (hg19) ; chr17:g.63837541C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837541C>G , CM000679.2:g.63837541C>G	GRCh38
NC_000017.10:g.61914901C>G , CM000679.1:g.61914901C>G	GRCh37
NC_000017.9:g.59268633C>G	NCBI36
NG_053004.1:g.10451G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.189G>C
ENST00000698016.1:c.160G>C	ENSP00000513502.1:p.Ala54Pro
ENST00000698022.1:c.118G>C	ENSP00000513504.1:p.Ala40Pro
ENST00000698027.1:c.160G>C	ENSP00000513505.1:p.Ala54Pro
ENST00000448276.7:c.301G>C MANE Select	ENSP00000392617.2:p.Ala101Pro
ENST00000225742.13:c.76G>C	ENSP00000225742.9:p.Ala26Pro
ENST00000323347.14:c.157G>C	ENSP00000318451.10:p.Ala53Pro
ENST00000448276.6:c.301G>C	ENSP00000392617.2:p.Ala101Pro
ENST00000577686.1:n.53-304G>C
ENST00000580054.1:c.85G>C	ENSP00000463793.1:p.Ala29Pro
ENST00000584400.5:c.217-304G>C	ENSP00000464503.1:n.217-304G>C
ENST00000613943.4:c.190G>C	ENSP00000483605.1:p.Ala64Pro
NM_001098426.1:c.301G>C	NP_001091896.1:p.Ala101Pro
XM_005257604.2:c.76G>C	XP_005257661.2:p.Ala26Pro
NM_001330439.1:c.76G>C	NP_001317368.1:p.Ala26Pro
NM_001330440.1:c.157G>C	NP_001317369.1:p.Ala53Pro
NM_001098426.2:c.301G>C MANE Select	NP_001091896.1:p.Ala101Pro
NM_001330440.2:c.157G>C	NP_001317369.1:p.Ala53Pro