Canonical Allele Identifier: CA400601447

Gene: SMARCD2

Linked Data

• COSMIC: COSM5421600 ; COSM5421601 ; COSM5421602
• MyVariant Identifiers: chr17:g.61914801C>G (hg19) ; chr17:g.63837441C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837441C>G , CM000679.2:g.63837441C>G	GRCh38
NC_000017.10:g.61914801C>G , CM000679.1:g.61914801C>G	GRCh37
NC_000017.9:g.59268533C>G	NCBI36
NG_053004.1:g.10551G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697953.1:n.289G>C
ENST00000698015.1:n.35G>C
ENST00000698016.1:c.260G>C	ENSP00000513502.1:p.Gly87Ala
ENST00000698021.1:c.64G>C
ENST00000698022.1:c.218G>C	ENSP00000513504.1:p.Gly73Ala
ENST00000698027.1:c.260G>C	ENSP00000513505.1:p.Gly87Ala
ENST00000448276.7:c.401G>C MANE Select	ENSP00000392617.2:p.Gly134Ala
ENST00000225742.13:c.176G>C	ENSP00000225742.9:p.Gly59Ala
ENST00000323347.14:c.257G>C	ENSP00000318451.10:p.Gly86Ala
ENST00000448276.6:c.401G>C	ENSP00000392617.2:p.Gly134Ala
ENST00000577686.1:n.53-204G>C
ENST00000580054.1:c.185G>C	ENSP00000463793.1:p.Gly62Ala
ENST00000584400.5:c.217-204G>C	ENSP00000464503.1:n.217-204G>C
ENST00000613943.4:c.290G>C	ENSP00000483605.1:p.Gly97Ala
NM_001098426.1:c.401G>C	NP_001091896.1:p.Gly134Ala
XM_005257604.2:c.176G>C	XP_005257661.2:p.Gly59Ala
NM_001330439.1:c.176G>C	NP_001317368.1:p.Gly59Ala
NM_001330440.1:c.257G>C	NP_001317369.1:p.Gly86Ala
NM_001098426.2:c.401G>C MANE Select	NP_001091896.1:p.Gly134Ala
NM_001330440.2:c.257G>C	NP_001317369.1:p.Gly86Ala