Canonical Allele Identifier: CA985416048

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1269345158
• gnomAD v3: 17-63832189-C-G
• gnomAD v4: 17-63832189-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832189C>G , CM000679.2:g.63832189C>G	GRCh38
NC_000017.10:g.61909549C>G , CM000679.1:g.61909549C>G	GRCh37
NC_000017.9:g.59263281C>G	NCBI36
NG_053004.1:g.15803G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2624G>C
ENST00000697953.1:n.3197G>C
ENST00000698013.1:n.3309G>C
ENST00000698014.1:n.3532G>C
ENST00000698015.1:n.2625G>C
ENST00000698016.1:c.*749G>C	ENSP00000513502.1:n.*749G>C
ENST00000698017.1:n.2699G>C
ENST00000698018.1:n.2830G>C
ENST00000698019.1:n.3028G>C
ENST00000698020.1:n.2134G>C
ENST00000698021.1:c.2043G>C
ENST00000698022.1:c.*749G>C	ENSP00000513504.1:n.*749G>C
ENST00000698023.1:n.2728G>C
ENST00000698024.1:n.2590G>C
ENST00000698025.1:n.2750G>C
ENST00000698026.1:n.1641G>C
ENST00000698027.1:c.*966G>C	ENSP00000513505.1:n.*966G>C
ENST00000698028.1:n.2833G>C
ENST00000448276.7:c.*749G>C MANE Select	ENSP00000392617.2:n.*749G>C
ENST00000448276.6:c.*749G>C	ENSP00000392617.2:n.*749G>C
ENST00000613943.4:c.2234G>C	ENSP00000483605.1:n.2234G>C
NM_001098426.1:c.*749G>C	NP_001091896.1:n.*749G>C
XM_005257604.2:c.*749G>C	XP_005257661.2:n.*749G>C
NM_001330439.1:c.*749G>C	NP_001317368.1:n.*749G>C
NM_001330440.1:c.*749G>C	NP_001317369.1:n.*749G>C
NM_001098426.2:c.*749G>C MANE Select	NP_001091896.1:n.*749G>C
NM_001330440.2:c.*749G>C	NP_001317369.1:n.*749G>C