Canonical Allele Identifier: CA400601479

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1191622382
• gnomAD v4: 17-63837459-A-G
• MyVariant Identifiers: chr17:g.61914819A>G (hg19) ; chr17:g.63837459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837459A>G , CM000679.2:g.63837459A>G	GRCh38
NC_000017.10:g.61914819A>G , CM000679.1:g.61914819A>G	GRCh37
NC_000017.9:g.59268551A>G	NCBI36
NG_053004.1:g.10533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.271T>C
ENST00000698015.1:n.17T>C
ENST00000698016.1:c.242T>C	ENSP00000513502.1:p.Met81Thr
ENST00000698021.1:c.46T>C
ENST00000698022.1:c.200T>C	ENSP00000513504.1:p.Met67Thr
ENST00000698027.1:c.242T>C	ENSP00000513505.1:p.Met81Thr
ENST00000448276.7:c.383T>C MANE Select	ENSP00000392617.2:p.Met128Thr
ENST00000225742.13:c.158T>C	ENSP00000225742.9:p.Met53Thr
ENST00000323347.14:c.239T>C	ENSP00000318451.10:p.Met80Thr
ENST00000448276.6:c.383T>C	ENSP00000392617.2:p.Met128Thr
ENST00000577686.1:n.53-222T>C
ENST00000580054.1:c.167T>C	ENSP00000463793.1:p.Met56Thr
ENST00000584400.5:c.217-222T>C	ENSP00000464503.1:n.217-222T>C
ENST00000613943.4:c.272T>C	ENSP00000483605.1:p.Met91Thr
NM_001098426.1:c.383T>C	NP_001091896.1:p.Met128Thr
XM_005257604.2:c.158T>C	XP_005257661.2:p.Met53Thr
NM_001330439.1:c.158T>C	NP_001317368.1:p.Met53Thr
NM_001330440.1:c.239T>C	NP_001317369.1:p.Met80Thr
NM_001098426.2:c.383T>C MANE Select	NP_001091896.1:p.Met128Thr
NM_001330440.2:c.239T>C	NP_001317369.1:p.Met80Thr