Canonical Allele Identifier: CA400601488

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914823G>C (hg19) ; chr17:g.63837463G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837463G>C , CM000679.2:g.63837463G>C	GRCh38
NC_000017.10:g.61914823G>C , CM000679.1:g.61914823G>C	GRCh37
NC_000017.9:g.59268555G>C	NCBI36
NG_053004.1:g.10529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.267C>G
ENST00000698015.1:n.13C>G
ENST00000698016.1:c.238C>G	ENSP00000513502.1:p.Pro80Ala
ENST00000698021.1:c.42C>G
ENST00000698022.1:c.196C>G	ENSP00000513504.1:p.Pro66Ala
ENST00000698027.1:c.238C>G	ENSP00000513505.1:p.Pro80Ala
ENST00000448276.7:c.379C>G MANE Select	ENSP00000392617.2:p.Pro127Ala
ENST00000225742.13:c.154C>G	ENSP00000225742.9:p.Pro52Ala
ENST00000323347.14:c.235C>G	ENSP00000318451.10:p.Pro79Ala
ENST00000448276.6:c.379C>G	ENSP00000392617.2:p.Pro127Ala
ENST00000577686.1:n.53-226C>G
ENST00000580054.1:c.163C>G	ENSP00000463793.1:p.Pro55Ala
ENST00000584400.5:c.217-226C>G	ENSP00000464503.1:n.217-226C>G
ENST00000613943.4:c.268C>G	ENSP00000483605.1:p.Pro90Ala
NM_001098426.1:c.379C>G	NP_001091896.1:p.Pro127Ala
XM_005257604.2:c.154C>G	XP_005257661.2:p.Pro52Ala
NM_001330439.1:c.154C>G	NP_001317368.1:p.Pro52Ala
NM_001330440.1:c.235C>G	NP_001317369.1:p.Pro79Ala
NM_001098426.2:c.379C>G MANE Select	NP_001091896.1:p.Pro127Ala
NM_001330440.2:c.235C>G	NP_001317369.1:p.Pro79Ala