Canonical Allele Identifier: CA400601587

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837510-A-G
• MyVariant Identifiers: chr17:g.61914870A>G (hg19) ; chr17:g.63837510A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837510A>G , CM000679.2:g.63837510A>G	GRCh38
NC_000017.10:g.61914870A>G , CM000679.1:g.61914870A>G	GRCh37
NC_000017.9:g.59268602A>G	NCBI36
NG_053004.1:g.10482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.220T>C
ENST00000698016.1:c.191T>C	ENSP00000513502.1:p.Met64Thr
ENST00000698022.1:c.149T>C	ENSP00000513504.1:p.Met50Thr
ENST00000698027.1:c.191T>C	ENSP00000513505.1:p.Met64Thr
ENST00000448276.7:c.332T>C MANE Select	ENSP00000392617.2:p.Met111Thr
ENST00000225742.13:c.107T>C	ENSP00000225742.9:p.Met36Thr
ENST00000323347.14:c.188T>C	ENSP00000318451.10:p.Met63Thr
ENST00000448276.6:c.332T>C	ENSP00000392617.2:p.Met111Thr
ENST00000577686.1:n.53-273T>C
ENST00000580054.1:c.116T>C	ENSP00000463793.1:p.Met39Thr
ENST00000584400.5:c.217-273T>C	ENSP00000464503.1:n.217-273T>C
ENST00000613943.4:c.221T>C	ENSP00000483605.1:p.Met74Thr
NM_001098426.1:c.332T>C	NP_001091896.1:p.Met111Thr
XM_005257604.2:c.107T>C	XP_005257661.2:p.Met36Thr
NM_001330439.1:c.107T>C	NP_001317368.1:p.Met36Thr
NM_001330440.1:c.188T>C	NP_001317369.1:p.Met63Thr
NM_001098426.2:c.332T>C MANE Select	NP_001091896.1:p.Met111Thr
NM_001330440.2:c.188T>C	NP_001317369.1:p.Met63Thr