Canonical Allele Identifier: CA292951631

Gene: SMARCD2

Linked Data

• dbSNP Id: rs879781912
• gnomAD v2: 17-61909609-A-G
• gnomAD v3: 17-63832249-A-G
• gnomAD v4: 17-63832249-A-G
• MyVariant Identifiers: chr17:g.61909609A>G (hg19) ; chr17:g.63832249A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832249A>G , CM000679.2:g.63832249A>G	GRCh38
NC_000017.10:g.61909609A>G , CM000679.1:g.61909609A>G	GRCh37
NC_000017.9:g.59263341A>G	NCBI36
NG_053004.1:g.15743T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2564T>C
ENST00000697953.1:n.3137T>C
ENST00000698013.1:n.3249T>C
ENST00000698014.1:n.3472T>C
ENST00000698015.1:n.2565T>C
ENST00000698016.1:c.*689T>C	ENSP00000513502.1:n.*689T>C
ENST00000698017.1:n.2639T>C
ENST00000698018.1:n.2770T>C
ENST00000698019.1:n.2968T>C
ENST00000698020.1:n.2074T>C
ENST00000698021.1:c.1983T>C
ENST00000698022.1:c.*689T>C	ENSP00000513504.1:n.*689T>C
ENST00000698023.1:n.2668T>C
ENST00000698024.1:n.2530T>C
ENST00000698025.1:n.2690T>C
ENST00000698026.1:n.1581T>C
ENST00000698027.1:c.*906T>C	ENSP00000513505.1:n.*906T>C
ENST00000698028.1:n.2773T>C
ENST00000448276.7:c.*689T>C MANE Select	ENSP00000392617.2:n.*689T>C
ENST00000448276.6:c.*689T>C	ENSP00000392617.2:n.*689T>C
ENST00000613943.4:c.2174T>C	ENSP00000483605.1:n.2174T>C
NM_001098426.1:c.*689T>C	NP_001091896.1:n.*689T>C
XM_005257604.2:c.*689T>C	XP_005257661.2:n.*689T>C
NM_001330439.1:c.*689T>C	NP_001317368.1:n.*689T>C
NM_001330440.1:c.*689T>C	NP_001317369.1:n.*689T>C
NM_001098426.2:c.*689T>C MANE Select	NP_001091896.1:n.*689T>C
NM_001330440.2:c.*689T>C	NP_001317369.1:n.*689T>C