Canonical Allele Identifier: CA400601473

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914817G>C (hg19) ; chr17:g.63837457G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837457G>C , CM000679.2:g.63837457G>C	GRCh38
NC_000017.10:g.61914817G>C , CM000679.1:g.61914817G>C	GRCh37
NC_000017.9:g.59268549G>C	NCBI36
NG_053004.1:g.10535C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.273C>G
ENST00000698015.1:n.19C>G
ENST00000698016.1:c.244C>G	ENSP00000513502.1:p.Pro82Ala
ENST00000698021.1:c.48C>G
ENST00000698022.1:c.202C>G	ENSP00000513504.1:p.Pro68Ala
ENST00000698027.1:c.244C>G	ENSP00000513505.1:p.Pro82Ala
ENST00000448276.7:c.385C>G MANE Select	ENSP00000392617.2:p.Pro129Ala
ENST00000225742.13:c.160C>G	ENSP00000225742.9:p.Pro54Ala
ENST00000323347.14:c.241C>G	ENSP00000318451.10:p.Pro81Ala
ENST00000448276.6:c.385C>G	ENSP00000392617.2:p.Pro129Ala
ENST00000577686.1:n.53-220C>G
ENST00000580054.1:c.169C>G	ENSP00000463793.1:p.Pro57Ala
ENST00000584400.5:c.217-220C>G	ENSP00000464503.1:n.217-220C>G
ENST00000613943.4:c.274C>G	ENSP00000483605.1:p.Pro92Ala
NM_001098426.1:c.385C>G	NP_001091896.1:p.Pro129Ala
XM_005257604.2:c.160C>G	XP_005257661.2:p.Pro54Ala
NM_001330439.1:c.160C>G	NP_001317368.1:p.Pro54Ala
NM_001330440.1:c.241C>G	NP_001317369.1:p.Pro81Ala
NM_001098426.2:c.385C>G MANE Select	NP_001091896.1:p.Pro129Ala
NM_001330440.2:c.241C>G	NP_001317369.1:p.Pro81Ala